Nursing Care of a

Family when a
Child has an
Endocrine or a
Metabolic Disorder
Endocrine System
• The endocrine system is composed of a
small group of ductless glands that work
together with the neurologic system to
regulate and coordinate all body systems
• The glands produce hormones, which are
secreted into surrounding tissue and picked
up by the bloodstream, where their action is
to turn on or turn off various organ
functions.
• Each gland of the endocrine system acts on a
specific target (or designated) organ or has
specific duties that are necessary for
regulating body processes.
Pituitary Gland
•The pituitary gland is divided into two lobes: the anterior
pituitary (adenohypophysis) and the posterior pituitary
(neurohypophysis). It is regulated by hormones secreted
from the hypothalamus.
•The anterior pituitary is responsible for secreting growth
hormone (GH), thyroid-stimulating hormone (TSH),
adrenocorticotrophic hormone (ACTH), follicle stimulating
hormone (FSH), luteinizing hormone (LH), and prolactin.
•The posterior pituitary secretes antidiuretic hormone
(ADH) and oxytocin.
 Growth Hormone Deficiency
•If production of human growth hormone (GH, or somatotropin) is deficient,
children are not able to grow to full size. As a result, children may appear well
proportioned but measure well below the average on a standard growth
chart.
•Deficient production of GH may result from a nonmalignant cystic tumor of
embryonic origin that places pressure on the pituitary gland or from
increased intracranial pressure as a result of trauma.
•In most children with hypopituitarism, the cause of the defect is unknown; it
may have a genetic origin.
•If hypopituitarism is not treated, predicting exactly what height a child will
reach is difficult because height varies with each individual. Without
treatment, however, most children will not reach more than 3 or 4 ft in
height.
Assessment
•usually normal in size and weight at birth.
•Within the first few years of life, the child begins to fall below the third percentile of height and
weight on growth charts.
•face appears infantile because the mandible is recessed and immature
•nose is usually small
•teeth may be crowded in a small jaw (and may erupt late)
•voice may be high pitched
•onset of pubic, facial, and axillary hair and genital growth will be delayed
Diagnosis
•History •physical assessment
• family history for traits of short stature or • funduscopic examination
constitutional delay (familial late development) • neurologic testing, and
• prenatal and birth history for any suggestion of
intrauterine growth restriction •blood analysis for hypothyroidism,
• any severe head trauma that could have injured hypoadrenalism, hypoaldosteronism, and
the pituitary gland or chronic illness growth factor–binding proteins are also
• 24-hour nutrition history to see if “picky eating helpful in ruling out a lesion or tumor.
habits” are extensive enough to halt growth
•wrist X-ray to establish Bone age
•A skull series, computed tomography (CT)
scanning, magnetic resonance imaging (MRI),
or ultrasound will be prescribed to detect
possible enlargement of the sella turcica,
which would suggest a pituitary tumor.
Therapeutic Management
•administration of intramuscular recombinant human growth hormone (rhGH) usually given daily
at bedtime, the time of day at which GH normally peaks
•some children may need suppression of luteinizing hormone–releasing hormone (LHRH, or
gonadotropin releasing hormone [GnRH]) to delay epiphyseal closure
•Other children may need supplements of gonadotropin or other pituitary hormones if these are
determined to be deficient
Nursing Diagnosis and Related Interventions
•Situational low self-esteem related to short stature
• Encourage parents to discuss these feelings and provide support to help them accept their child in this
new light as well as participate in making the new plan of care a success
• Children with short stature tend to report feelings of lower quality of life largely related to
discrimination. You may need to remind parents to assign duties and responsibilities to children that
match their chronologic age, not their physical size, in order to promote children’s feelings of maturity
and self esteem.
• Because children different in any way from their peers may be the victims of bullying, alert parents to
this possibility and assess for this at well-child visits to help protect the child’s quality of life
 Growth Hormone Excess
•usually is caused by a benign tumor of the anterior pituitary (an
adenoma).
•If the overproduction occurs before the epiphyseal lines of the long
bones have closed, excessive or overgrowth will result.
•Weight will become excessive also, but it is proportional to height.
•The skull circumference typically exceeds usual, and the fontanels may
close late or not at all.
•After epiphyseal lines close, acromegaly (enlargement of the bones of
the head and soft parts of the hands and feet) begins to be evident.
•The tongue can become so enlarged and thickened that it protrudes
from the mouth, giving the child a dull, apathetic appearance and
making it difficult to articulate words.
Therapeutic Management
•If X-rays or ultrasounds of the skull reveal that the sella turcica is enlarged or that a tumor is present,
laser surgery to remove the tumor or cryosurgery (freezing of tissue) is the primary treatment.
•If no tumor is present, a GH antagonist such as bromocriptine taken orally or octreotide taken by
injection can slow the production of GH
•When GH secretion is halted in this way, other hormones may also be affected. The child may need to
receive supplemental thyroid extract, cortisol, and gonadotropin hormones in later life.
•A more permanent therapy is irradiation or radioactive implants of the pituitary gland, again to halt
GH production.
•Nursing Care Management
• It is difficult for a child always to be bigger and taller than playmates, and problems such as buying clothes or
fitting into airline seats continue to be very real and distressing in adulthood. Counseling them about
maintaining self-esteem and making the adjustments necessary to accommodate their larger-than-usual size
is a nursing responsibility
Diabetes Insipidus
•release of ADH by the pituitary gland which causes less reabsorption of fluid in the kidney
tubules.
•Urine becomes extremely dilute, and a great deal of fluid is lost from the body.
•may reflect an X-linked dominant trait, or it may be transmitted by an autosomal recessive gene.
•may also result from a lesion, tumor, or injury to the posterior pituitary, or it may have an
unknown cause
•In a rare type of diabetes insipidus, pituitary function is adequate, but the kidneys’ nephrons are
not sensitive to ADH (a kidney-related etiology).
Assessment
•The cardinal signs of DI are polyuria and polydipsia.
•The child with diabetes insipidus experiences excessive thirst (polydipsia) that is relieved only by
drinking large amounts of water; there is accompanying polyuria.
•Frequently the first sign is enuresis.
•In the infant the initial symptom is irritability that is relieved with feedings of water but not milk.
•Urine output may reach 4 to 10 L in a 24-hour period (normal range, 1 to 2 L), depending on age.
•The specific gravity of the urine will be as low as 1.001 to 1.005
•sodium becomes concentrated or hypernatremia occurs with symptoms of irritability, weakness,
lethargy, fever, headache, and seizures
•If the condition remains untreated, the child is in danger of losing such a large quantity of water
that dehydration and death can result.
Diagnosis
•simplest test used to diagnose this condition is the water deprivation test, which restricts oral
fluids and observes changes in urine volume and concentration
• In DI, fluid restriction has little or no effect on urine formation but causes weight loss from dehydration.
• Accurate results from this procedure require strict monitoring of fluid intake and urinary output,
measurement of urine concentration (specific gravity or osmolality), and frequent weight checks
•administration of vasopressin (Pitressin) to rule out kidney disease
• vasopressin decreases the blood pressure, alerting the kidney to retain more fluid in order to maintain
vascular pressure
• If the fault that is causing the dilute urine is with the pituitary gland, not the kidneys, the child’s urine
output will decrease; if the fault is with the kidneys, urine will remain dilute and excessive in amount
because the diseased kidneys cannot concentrate fluid.
•MRI, CT scanning, or an ultrasound study of the skull reveals whether a lesion or tumor is
present.
Therapeutic Management
•Surgery is the treatment of choice if a tumor is present.
•the condition can be controlled by the administration of desmopressin (DDAVP), an arginine
vasopressin.
• In an emergency, this drug can be given intravenously (IV).
• For long-term use, it is given intranasally or orally. If desmopressin is given as an intranasal spray, this
may cause nasal irritation; the route will not be effective if the child develops an upper respiratory tract
infection with swollen mucous membranes.
Nursing Diagnosis and Related Interventions
•Risk for deficient fluid volume related to constant, excessive loss of fluid through urination
• Be certain to explain the difference between diabetes insipidus and diabetes mellitus so the family is
not confused about the differences in therapy.
• Help the family establish a routine to ensure the child receives adequate fluid to discourage a feeling of
thirst and has access to bathroom facilities possibly more frequently than others.
• Encourage children to wear a medical alert tag identifying them as having diabetes insipidus.
• Urge parents to inform school personnel that the child may need to use the bathroom frequently and to
plan on frequent bathroom stops and adequate fluid intake on long trips or activity-filled days.
Nursing Care Management
•After confirmation of the diagnosis, parents need a thorough explanation regarding the
condition, with specific clarification that DI is a different condition from DM. They must realize
that treatment is lifelong.
•If children are to receive DDAVP, ideally two caregivers should learn the correct procedure for
preparation and administration of the drug. Once children are old enough, encourage them to
assume full responsibility for their care.
•For emergency purposes, these children should wear medical alert identification.
•School personnel need to be aware of the problem so they can grant children unrestricted use of
the lavatory.
Syndrome of Inappropriate Antidiuretic
Hormone
•a rare condition in which there is overproduction of ADH by the posterior pituitary gland
•This results in a decrease in urine production, which leads to water intoxication
•As sodium levels fall in proportion to water, the child develops hyponatremia or a lowered
sodium plasma level.
•SIADH can be caused by central nervous system infections such as bacterial, long-term positive
pressure ventilation, or pituitary compression such as could occur from edema or a tumor.
•Assessment
• Clinical signs of SIADH are directly related to fluid retention and hyponatremia. When serum sodium
levels are diminished to 120 mEq/L, affected children may display anorexia, nausea, vomiting, stomach
cramps, irritability, and personality changes.
• With progressive hyponatremia, more serious neurologic signs, such as stupor and seizures, may occur
Therapeutic Management
•Therapy consists of restriction of fluid and supplementation of sodium by IV fluid if needed.
•Demeclocycline, a tetracycline antibiotic that has the side effect of blocking the action of ADH in
renal tubules and reducing resorption of water, may be prescribed

Nursing Care Management

•Close attention to measurements of intake and output, weight, and monitoring for the
development of neurologic symptoms is essential
•Seizure precautions are implemented in children at high risk for SIADH.
•The child and family need education and support regarding the rationale for fluid restrictions.
•The rare child with chronic SIADH is placed on long-term ADH-antagonizing medication. The
patient and family will need instruction regarding medication administration.
Thyroid Gland
•located at the front of the neck
•is responsible for controlling the rate of metabolism in the body through the hormones
thyroxine (T4 ) and triiodothyronine (T3 ), which are produced by its follicular cells
Congenital Hypothyroidism
•Congenital hypofunction (reduced or absent function) occurs as a result of an absent or
nonfunctioning thyroid gland in a newborn.
•increased incidence is associated with Whites
•is evident more in infant girls than boys, and in newborns of either low birth weight or a birth
weight over 4,500 g
•Congenital hypothyroidism or an indication that the infant’s thyroid is not functioning well may
not be noticeable at birth because the mother’s thyroid hormones maintain adequate levels in
the fetus during pregnancy
•symptoms of the disorder become apparent during the first 3 months of life in a formula-fed
infant and at about 6 months in a breastfed infant
Assessment
•an early sign that parents report is that their child sleeps excessively
•because the tongue is enlarged, parents notice respiratory difficulty, noisy respirations, or
obstruction
•child may also suck poorly because of sluggishness or choking from the enlarged tongue
•the skin of the extremities usually feels cold, dry, and perhaps scaly, and the child does not
perspire
•Pulse, respiratory rate, and body temperature all become subnormal.
•Prolonged jaundice may be present due to the immature liver’s inability to conjugate bilirubin
•Anemia may increase the child’s lethargy and fatigue
 Diagnosis
Physical Examination •The hypotonia affects the intestinal tract as well, so
the infant develops chronic constipation
•hair is brittle and dry
•abdomen enlarges because of intestinal distention
•child’s neck appears short and thick and poor muscle tone
•facial expression is dull and open mouthed because Laboratory and Diagnostic Findings
of the infant’s attempts to breathe around the
enlarged tongue •Infants have low radioactive iodine uptake levels,
low serum T4 and T3 levels
•extremities appear short and fat; as muscles become
hypotonic, deep tendon reflexes decrease and the •elevated thyroid-stimulating factor
infant develops a floppy, rag-doll appearance.
•Blood lipids are increased
•Generalized obesity usually occurs.
•X-ray may reveal delayed bone growth
•Dentition will be delayed, or teeth may be defective
when they do erupt •ultrasound reveals a small or absent thyroid gland
Therapeutic Management
•Transient hypothyroidism usually fades by 3 months’ time.
•The treatment for true hypothyroidism is the oral administration of synthetic thyroid hormone
(sodium levothyroxine). The child needs to continue taking the synthetic thyroid hormone
indefinitely to supplement that which the thyroid does not make.
•Supplemental vitamin D may also be given to prevent the development of rickets when, with the
administration of thyroid hormone, rapid bone growth begins
•Further cognitive challenges can be prevented as soon as therapy is started, but any degree of
impairment that was already present cannot be reversed.
•Be certain the parents know the rules for long-term medication administration with children,
particularly the rule about not putting medicine in a large amount of food.
•Periodic monitoring of T4 and T3 helps to ensure an appropriate medication dosage.
Acquired Hypothyroidism (Hashimoto
Thyroiditis)
•Hashimoto disease is the most common form of acquired hypothyroidism in childhood
•the age at onset is most often 10 to 11 years
•There may be a family history of thyroid disease
•occurs more often in girls than in boys
•The decrease in thyroid secretion is caused by the development of an autoimmune
phenomenon that interferes with thyroid production
Assessment
•In response to the increased level of TSH, hypertrophy of the thyroid gland (goiter) can occur, and
body growth is impaired by a lack of T4 , with prominent symptoms of obesity, lethargy, and
delayed sexual development.
•Antithyroid antibodies will be present in serum if the illness was caused by an autoimmune
process.
•For diagnosis, children are administered radioactive iodine.
• If the nodes are benign, there is generally a rapid uptake of radioactive iodine (“hot nodes”).
• If there is no uptake (“cold nodes”), carcinoma is a much more likely diagnosis (which is rare at this age).

Therapeutic Management
•Treatment for acquired hypothyroidism is the administration of synthetic thyroid hormone
(sodium levothyroxine)
Goiter
•goiter is an enlargement or hypertrophy of the thyroid gland
•may occur with deficient (hypothyroid), excessive (hyperthyroid), or normal (euthyroid) TH secretion
•can be congenital or acquired
•Congenital disease usually occurs as a result of maternal administration of antithyroid drugs or iodides
during pregnancy.
•Acquired disease can result from increased secretion of pituitary TSH in response to decreased
circulating levels of TH or from infiltrative neoplastic or inflammatory processes.
•In areas where dietary iodine (essential for TH production) is deficient, goiter can be endemic
Nursing Management
• Enlargement of the thyroid at birth can be sufficient to cause severe respiratory distress. Immediate surgery to
remove part of the gland may be lifesaving in infants born with a goiter.
• When thyroid replacement is necessary, parents have the same needs regarding its administration as discussed
for the parents of children who have hypothyroidism
Hyperthyroidism (Graves Disease)
•Hyperthyroidism is oversecretion of thyroid hormones by the thyroid gland
•Neonatal Graves disease develops in the newborns of 1% to 2% of pregnant women who have
the disease. Like transient hypothyroidism, this usually resolves between 3 to 12 weeks of age
with no long-term results as the maternal antibodies are cleared.
•In older children, overactivity of the thyroid gland can occur from the glands being
overstimulated by TSH
•hyperthyroidism in children is caused by an autoimmune reaction that results in overproduction
of immunoglobulin G (IgG), which stimulates the thyroid gland to overproduce T4
Assessment
•children gradually experience nervousness, tremors, loss of muscle strength, and easy fatigue
•basal metabolic rate, blood pressure, and pulse all increase
•skin feels moist, and they perspire freely
•always feel hungry and, although they eat constantly, do not gain weight and may even lose weight
because of the increased basal metabolic rate
•thyroid gland appears as a swelling on the anterior neck
•In a few children, the eye globes become prominent (exophthalmia), giving the child a wide-eyed,
staring appearance.
•Laboratory tests show elevated T4 and T3 levels and increased radioactive iodine uptake.
•TSH is low or absent because the thyroid is being stimulated by antibodies
•Ultrasound will reveal the enlarged thyroid.
•On X-ray, bone age will appear advanced beyond the chronologic age of the child.
Therapeutic Management
•Therapy consists first of a course of a β-adrenergic blocking agent, such as propranolol, to
decrease the antibody response.
•After this, the child is placed on an antithyroid drug, such as propylthiouracil (PTU) or
methimazole, to suppress the formation of T4 .
• While the child is taking these drugs, the blood is monitored for leukopenia (decreased white blood cell
count) and thrombocytopenia (decreased platelet count)— side effects of these drugs. If either of these
results, the drug is discontinued until the white blood cell or platelet count returns to normal, so the
child does not develop an infection or experience spontaneous bleeding.

•If the child has a toxic reaction to medical management (severely lowered white blood cell count
or platelet count) or is noncompliant about taking the medicine, radioiodine ablative therapy
with 131 I or thyroid surgery to reduce the size of the thyroid gland can be accomplished.
• This has long-term effects because after both radioiodine ablative therapy and thyroidectomy,
supplemental thyroid hormone therapy may need to be taken indefinitely because the gland is no
longer able to produce an adequate amount.
Nursing Diagnosis and Related Interventions
•Situational low self-esteem related to lack of coordination and presence of prominent goiter or
exophthalmia
• Offer parents support to supervise medication administration so they can be certain the child takes the
prescribed medicine every day.
• Caution children not to stop taking the medicine abruptly, or a thyroxine crisis (sudden onset of extreme
symptoms of hyperthyroidism) can occur.
• Parents may ask if their child can have surgery as a cure so that long-term administration of medicine
will not be required. Help them understand that surgery may not dispel the need for medication; if a
large portion of the thyroid gland is removed, it may be necessary for their child to take medicine
indefinitely to make up for the missing gland.
 Nursing Care Management
•Nursing care focuses on treating physical symptoms •If surgery is anticipated, iodine is administered for a few
before a response to drug therapy is achieved. These weeks before the procedure. Because oral iodine preparations
children need a quiet, unstimulating environment that are unpalatable, they should be mixed with a strong-tasting
is conducive to rest. fruit juice, such as grape or punch flavors, and be given
through a straw.
•The nurse can help parents understand the medical
reason for behavior changes and offer ways to •Psychologic preparation of children for thyroidectomy is
minimize them. similar to that for any other surgical procedure. However, the
fear of having one’s throat cut is unique to thyroidectomy. The
•Heat intolerance may cause a child to dress differently. nurse should explain that the throat is not cut, only the skin,
The use of light cotton clothing in the home, good to remove the gland.
ventilation, air conditioning or fans, frequent baths,
and adequate hydration is helpful in providing •Children should be prepared for the dressing around the neck
comfort. and the possibility of an endotracheal or “breathing” tube
after surgery
• Although the need for calories is increased, these
should be provided in wholesome foods rather than •Postoperative care involves positioning with the neck slightly
“junk” foods flexed to avoid strain on the sutures and observation for
bleeding and complications.
•Parents should also be aware of the signs of
hypothyroidism, which can occur from overdose of the
drugs.
Adrenal Gland
•The adrenal glands consist of two distinct portions: the cortex, or outer section, and the
medulla, or inner core
•The cortex secretes three groups of hormones that are classified according to their biologic
activity: (1) glucocorticoids (cortisol, corticosterone), (2) mineralocorticoids (aldosterone), and
(3) sex steroids (androgens, estrogens, and progestins).
• The glucocorticoids and mineralocorticoids influence metabolic regulation and stress adaptation.
• The sex steroids influence sexual development but are not essential because the gonads secrete the
major supply of these hormones

•The adrenal medulla secretes the catecholamines epinephrine and norepinephrine.

Acute Adrenocortical Insufficiency
•the function of the entire gland suddenly becomes nonproductive
•Usually, this occurs following a severe overwhelming body infection such as meningococcemia.
•It also can occur when corticosteroid therapy such as prednisone, which has been maintained at
high levels for a long period, is abruptly stopped and the gland does not return to usual function.
Assessment
•Early symptoms of adrenocortical insufficiency include increased irritability, headache, diffuse
abdominal pain, weakness, nausea and vomiting, and diarrhea.
•child’s blood pressure drops to extremely low levels, the child appears ashen gray, and the pulse
will be weak.
•Temperature gradually becomes elevated; dehydration and hypoglycemia (an abnormally low
concentration of blood glucose) become marked because cortisol is no longer present to
regulate this.
•As sodium and chloride blood levels fall from a lack of aldosterone production, the potassium
level becomes elevated due to the usual inverse relationship between sodium and potassium
values.
•The child appears prostrate and seizures may occur.
•Without treatment, death can occur abruptly
Therapeutic Management
•Treatment involves the immediate replacement of cortisol (with IV hydrocortisone sodium
succinate); the administration of deoxycorticosterone acetate (DOCA), the synthetic equivalent
of aldosterone; and IV 5% glucose in normal saline solution to restore blood pressure, sodium,
and blood glucose levels.
•A vasoconstrictor may be necessary to elevate the blood pressure.
Nursing Care Management
•Because of the abrupt onset and potentially fatal outcome of this condition, prompt recognition
is essential. Vital signs and blood pressure are taken every 15 minutes to monitor the
hyperpyrexia and shocklike state.
•As soon as therapy is instituted, the nurse should monitor the child’s response to fluid and
cortisol replacement.
•The nurse should regulate IV infusions carefully to guard against too-rapid administration of
drugs.
•The nurse should also record intake and urinary output and monitor electrolytes frequently.
•The nurse should plan a gradual schedule for reintroducing liquids. For children who refuse to
drink, the prospect of having the IV infusion removed once oral fluids are increased is often a
motivating factor.
 Chronic Adrenocortical
Insufficiency (Addison Disease)
•Chronic adrenocortical insufficiency is rare in children.
•Causes include infections (e.g., fungal, human immunodeficiency virus,
tuberculosis), destructive lesions of the adrenal gland or neoplasms, and
autoimmune processes, or the cause is idiopathic.
•Evidence of this disorder is usually gradual in onset, since 90% of adrenal
tissue must be nonfunctional before signs of insufficiency are
manifested.
•Treatment involves replacement of glucocorticoids (cortisol) and
mineralocorticoids (aldosterone).
•During stressful situations, the dosage must be tripled to accommodate
the body’s increased need for glucocorticoids.
•Overdosage produces appearance of cushingoid signs.
•more severe states of chronic adrenal insufficiency require
mineralocorticoid replacement to maintain fluid and electrolyte balance
Nursing Care Management
•Parents must be aware of the continuous need for cortisol replacement. Sudden termination of
the drug because of inadequate supplies or inability to ingest the oral form because of vomiting
places the child in danger of an acute adrenal crisis.
•Parents should always have a spare supply of the medication in the home. Ideally they will have
a prefilled syringe of hydrocortisone and be instructed in proper technique for intramuscular
administration of the drug in case of crisis.
•Parents also need to be aware of side effects of the drugs. Parents should be aware of signs of
overdose and report these to the practitioner.
•Parents need to be aware that during periods of emotional or physical crisis the child requires
additional hormone replacement.
•The child should wear medical identification, such as a bracelet, to permit medical personnel to
adjust requirements during emergency care.
 Cushing Syndrome
•Cushing syndrome is caused by overproduction of the adrenal
hormone cortisol; this usually results from increased ACTH production
due to either a pituitary or adrenal cortex tumor.
•The peak age of occurrence is 6 or 7 years, but the syndrome can occur
as early as infancy.
•Cushing syndrome in young children may be due to an adrenal tumor.
•Cushing syndrome is uncommon in children. When seen, it is often
caused by excessive or prolonged steroid therapy that produces a
cushingoid appearance. This condition is reversible once the steroids
are gradually discontinued.
Assessment

•The overproduction of cortisol results in increased glucose

production; this causes fat to accumulate on the cheeks, chin, and
trunk, causing a moon-faced, stocky appearance.
•Cortisol is catabolic, so protein wasting also occurs.
•This leads to muscle wasting, making the extremities appear thin in
contrast to the trunk, and loss of calcium in bones (osteoporosis).
•Cortisol also suppresses the immune system, so humoral immunity is
decreased, leaving children susceptible to infections.
•Additionally, it causes vasoconstriction, so extreme hypertension
may occur
•other effects are hyperpigmentation (the child’s face appears
unusually red, especially the cheeks), which occurs from the
melanin-stimulating properties of ACTH;
•abnormal masculinization or feminization, which occurs from
overproduction of androgen or estrogen
•poor wound healing, which results from reduced protein
regulation
•Purple striae resulting from collagen deficit appear on the child’s
hips, abdomen, and thighs
•Polyuria begins to develop as the body tries to excrete increased
glucose levels.
•Growth ceases, short stature will result if the condition is not
reversed before the epiphyseal lines close.
•children who receive high doses of synthetic corticosteroids over
a long period may develop the same symptoms as those
observed in Cushing syndrome (termed a cushingoid
appearance).
Diagnosis
•the serum of children with Cushing syndrome reveals an elevated plasma cortisol and increased
urinary free-cortisol levels.
•A dexamethasone suppression test may be administered for diagnosis. For this test, a child is
administered a dose of dexamethasone (a glucocorticoid); if the child has the syndrome, the
plasma level of adrenal cortisol will fall.
•CT scan or ultrasound reveals the enlarged adrenal or pituitary gland, confirming the diagnosis.
Therapeutic Management
•Treatment of Cushing syndrome is the surgical removal of the causative tumor.
•If a major part of the adrenal glands are surgically removed, the child will need replacement
cortisol therapy indefinitely.
•If a major portion of the pituitary gland is removed because the problem was overproduction of
ACTH, the replacement of all pituitary hormones may be necessary.
Nursing Care Management
•before surgery, parents need to be adequately informed of the operative benefits and
disadvantages.
•Postoperative teaching regarding drug replacement is the same
•The psychologic depression can be profound and may not improve for months. Parents should
be aware of the physiologic reasons behind these symptoms in order to be supportive of the
child.
Congenital Adrenal Hyperplasia
•Congenital adrenal hyperplasia is a syndrome that is inherited as an autosomal recessive trait
and which causes the adrenal glands to not be able to synthesize cortisol.
•Because the adrenal gland is unable to produce cortisol, the level of adrenocorticotropic
hormone (ACTH) secreted by the pituitary increases in an attempt to stimulate the gland to
increase function.
•Although the adrenals enlarge (hyperplasia) under the effect of ACTH, they still cannot produce
cortisol; instead, they overproduce androgen.
Assessment
•excessive androgen production during intrauterine life causes the
genital organs in a male fetus to “overgrow,” or increase in size
•it masculinizes a female fetus (i.e., the clitoris is so enlarged that it
appears to be a penis; if the labia are fused, she appears to be a boy
with undescended testes and hypospadias)
•Infants fail to gain weight, and hyponatremia and hyperkalemia may be
significant. Cardiac arrest can occur.
•Untreated CAH results in early sexual maturation, with enlargement of Diagnosis
the external sexual organs; development of axillary, pubic, and facial • serum analysis, which shows the
hair; deepening of the voice; acne; and marked increase in musculature increased level of androgen
with changes toward an adult male physique. • Ultrasonography
•in contrast to precocious puberty, breasts do not develop in the female, • It is especially useful in CAH
and she remains amenorrheic and infertile. because it readily identifies the
presence of female reproductive
•In males, the testes remain small, and spermatogenesis does not occur.
organs or male testes in a
•In both sexes linear growth is accelerated, and epiphyseal closure is newborn or child with
premature, resulting in short stature by the end of puberty ambiguous genitalia
Therapeutic Management
•both male and female infants are given a corticosteroid agent, such as oral hydrocortisone, to
replace what they cannot produce naturally.
•When a corticosteroid is given to the child in this way, stimulation by ACTH decreases, the
production of androgen returns to normal limits, and no further masculinization occurs.
•Because corticosteroid therapy needs to continue indefinitely, the child needs periodic analysis
of serum cortisol levels and growth measurements to estimate the effectiveness of the therapy.
•Children may need to have a routine dose increased when they are undergoing periods of stress,
such as during surgery or infection.
•They may need support throughout life if their body image is distorted because of body changes
at birth.
Nursing Diagnosis and Related Interventions
•Situational low self-esteem related to genital formation at variance with true gender
• Parents of females with congenital adrenogenital hyperplasia may need a great deal of support during
the first few days of their child’s life because they may voice that their child is imperfect in an
embarrassing, hard-to-explain way.
• When they are the results of the chromosome analysis, parents may react with grief for the loss of the
son they first thought had been born to them.
• Parents need support from healthcare personnel who recognize that the child is simply lacking the
ability to produce cortisol but is complete in every other way.
Nursing Care Management
•As with any congenital defect, the parents require an adequate explanation of the condition and time to
grieve for the loss of perfection. In this instance they may also need to grieve for the loss of the desired-sex
child.
•As soon as the sex is determined, inform parents of the findings and encourage them to choose an
appropriate name and identify the child as a male or female, with no reference to ambiguous sex.
•If the appearance of the enlarged genitalia in a girl concerns the parents, encourage them to discuss their
feelings.
•If surgery is anticipated, showing parents before-and after photographs of reconstruction helps to reinforce
the expected cosmetic benefits
•Parents should have injectable hydrocortisone available and know how to prepare and administer the
intramuscular injection
•Parents, and later the child, need to understand that the medical regimen must be a lifelong commitment;
therefore provide them with the education and counseling that is most likely to ensure informed and willing
compliance.
•Because the hereditary form of adrenal hyperplasia is an autosomal recessive disorder, refer parents for
genetic counseling before they conceive another child.
Salt-Losing Form of Congenital
Adrenogenital Hyperplasia
•If there is a complete blockage of cortisol formation, aldosterone production will also be
deficient. Without adequate aldosterone, salt is not retained by the body, so fluid is not retained
•Almost immediately after birth, affected infants begin to have vomiting, diarrhea, anorexia, loss
of weight, and extreme dehydration
•If these symptoms remain untreated, the extreme loss of salt and fluid can lead to collapse and
death as early as 48 to 72 hours after birth.
•About one third of children with congenital adrenogenital hyperplasia are affected by this
complete deficiency.
•Because boys with this syndrome appear normal at birth, the symptoms may be incorrectly
diagnosed as infection or as failure to thrive.
•In girls, because of the ambiguous genitalia, the correct diagnosis can be made more easily
Assessment
•Weigh newborns at birth and again at 24 hours is to detect this condition
•Weighing infants at each well-child health checkup is also important because, in boys, the
inability to gain back their birth weight may be the first sign of the syndrome.

Therapeutic Management
•need to be supplemented with hydrocortisone, an increased salt intake, and DOCA, a synthetic
aldosterone, in order to maintain a balance of fluid and electrolytes
•As the child grows older, fludrocortisone (Florinef), a mineralocorticoid, may be given orally to
aid salt retention.
Nursing Diagnosis and Related Interventions
•Risk for deficient fluid volume related to loss of body fluid
• Teach parents about the body’s critical need to balance aldosterone, salt, and water, so they understand
the drastic consequences if their child skips a dose of medication.
• Help them to set up a schedule as necessary for measuring their child’s weight, giving medication, or
measuring urine output.
 Hyperaldosteronism
•Excessive secretion of aldosterone may be caused by an adrenal tumor or, in some types of adrenogenital
syndromes, result from enzymatic deficiency.
•The signs and symptoms are caused by increased sodium levels, water retention, and potassium loss.
•Hypervolemia causes hypertension and resultant headaches
•Hypokalemia results in muscular weakness, paresthesia, episodes of paralysis, and tetany and may be responsible
for polyuria and consequent polydipsia.
•Treatment: Temporary treatment of the disorder involves replacement of potassium and administration of spironolactone
(Aldactone), a diuretic that blocks the effects of aldosterone, thereby promoting excretion of sodium and water, while preserving
potassium.
• Definitive treatment is similar to that for chronic adrenocortical insufficiency.
•Nursing Management: If diuretics are used, they should be administered in the morning to avoid accidents during the night.
• Children need unrestricted restroom privileges at school.
• Potassium supplements should be mixed with fruit juice such as grape juice to increase their acceptability, and potassium-rich
foods should be encouraged.
• Parents need to be aware of the signs of hypokalemia and hyperkalemia.
Parathyroid Glands
•The four parathyroid glands, located posterior and adjacent to the thyroid gland
•regulate serum levels of calcium in the body by controlling the rate of bone metabolism through
the secretion of parathyroid hormone
•This hormone is unique in that it is not under the control of the pituitary gland but rather is
controlled by a negative feedback from the circulating serum levels of calcium and how much
vitamin D is present to allow absorption of calcium from the gastrointestinal tract into the
bloodstream
 Hypocalcemia
•Hypocalcemia is a lowered blood calcium level that occurs to some extent in all newborns before they begin
sucking well.
•It occurs because phosphorus and calcium levels are always maintained in an inverse proportion to each other in
the bloodstream (if phosphorus levels rise, calcium levels decrease, and vice versa).
•chief sign of hypocalcemia is neuromuscular irritability, referred to as latent tetany. The newborn will
demonstrate jitteriness when handled or if the infant has been crying for an extended period
•Any of these tests are helpful in determining whether a newborn’s jitteriness is a result of hypocalcemia or a
central nervous system concern.
•If the blood calcium level falls well below 7 mg/dl, manifest tetany may result, which is commonly observed as
muscular twitching and a carpopedal spasm (abduction of the hand and flexion of the wrist with the thumb
positioned across the palm). In pedal spasm (foot spasm), the foot is extended, the toes flex, and the sole of the
foot cups.
•Without therapy at this point, generalized seizures or spasm of the larynx, with the infant emitting a high-
pitched, crowing sound on inspiration, can occur. If the spasm is prolonged, respirations may cease.
Therapeutic Management
•Treatment is aimed at increasing the calcium level in the blood above the point of latent tetany.
• This can be administered orally as 10% calcium chloride if the infant can and will suck.
• Otherwise, it will be given IV as a 10% solution of calcium gluconate.

•Newborns who are having generalized seizures may require anticonvulsant therapy
•Emergency equipment for intubation to relieve laryngospasm should be available.
•infants are given oral calcium therapy until their calcium level stabilizes at greater than 7.5
mg/dl.
•the infant also may be given a vitamin D supplement
Hypoparathyroidism
•Hypoparathyroidism is a spectrum of disorders that result in deficient PTH.
•Congenital hypoparathyroidism may be caused by a specific defect in the synthesis or cellular
processing of PTH or by aplasia or hypoplasia of the gland
•Hypoparathyroidism can occur secondary to other causes.
•Postoperative hypoparathyroidism may follow thyroidectomy with acute or gradual onset. It may
be transient or permanent.
Assessment
•Muscle cramps are an early symptom, progressing to numbness, stiffness,
and tingling in the hands and feet.
•A positive Chvostek or Trousseau sign or laryngeal spasms may be present.
•Convulsions with loss of consciousness may occur. These episodes may be
preceded by abdominal discomfort, tonic rigidity, head retraction, and
cyanosis.
•Children with long-standing hypoparathyroidism may have dry, scaly, coarse
skin with eruptions often caused by Candida organisms
•Dental and enamel hypoplasia often occurs.
•Cataracts develop in patients with untreated disease.
•Mild deficiency may be identified through laboratory studies.
• decreased serum calcium and increased serum phosphorus.
• Levels of plasma PTH are low in idiopathic hypoparathyroidism but high in
pseudohypoparathyroidism
• bone radiographs are usually normal, they may demonstrate increased bone
density and suppressed growth
Therapeutic Management
•Acute or severe tetany is corrected immediately by IV and oral administration of calcium gluconate and
follow-up doses as necessary to achieve normal calcium levels.
•When diagnosis is confirmed, vitamin D therapy is begun
Nursing Care Management
•Initial nursing care includes institution of seizure and safety precautions and observation for signs of
laryngospasm such as stridor, hoarseness, and a feeling of tightness in the throat.
•A tracheostomy set and injectable calcium gluconate should be located near the bedside for emergency
use. The administration of calcium gluconate requires precautions against extravasation of the drug.
•After initiation of treatment, the nurse discusses with the parents the need for continuous daily
administration of calcium salts and vitamin D.
•Because vitamin D toxicity can be a serious consequence of therapy, parents should watch for signs that
include weakness, fatigue, lassitude, headache, nausea, vomiting, and diarrhea.
Hyperparathyroidism
•Hyperparathyroidism is rare in childhood but can be
primary or secondary.
•The most common cause of primary hyperparathyroidism
is adenoma of the gland.
•Primary hyperparathyroidism is rarely seen in children, but
when it occurs, it is often due to a single parathyroid
adenoma.
•The most common causes of secondary
hyperparathyroidism are chronic renal disease, renal
osteodystrophy, and congenital anomalies of the urinary
tract.
•The common symptom of hyperparathyroidism is
hypercalcemia.
Therapeutic Management
•The treatment of primary hyperparathyroidism is surgical removal of the tumor or hyperplastic
tissue
•Parathyroidectomy may cause recurrent laryngeal nerve damage, voice impairment,
hypoparathyroidism, hypocalcemia, and tetany.
•Treatment of secondary hyperparathyroidism is directed at the underlying contributing cause,
which subsequently restores the serum calcium balance.
•oral administration of calcium salts, high doses of vitamin D to enhance calcium absorption, a
•low-phosphorus diet, and administration of a phosphorus-mobilizing aluminum hydroxide to
reduce phosphate absorption
Nursing Care Management
•Much of the initial nursing care is related to the physical symptoms and prevention of complications.
•To minimize renal calculi formation, hydration is essential. Encourage the child to drink fruit juices that
maintain a low urinary pH, such as cranberry or apple juice, since acidity of body fluids promotes
calcium absorption.
•All urine should be strained for evidence of renal casts.
•Children with renal rickets (osteodystrophy) may wear braces to minimize skeletal deformities.
•If the child is confined to bed, the nurse should consult with the physical therapist regarding proper use
of orthopedic appliances.
•The diet needs supervision to ensure compliance with low-phosphate foods, particularly dairy products.
•If parathyroidectomy is anticipated, care is similar to that discussed for the child with hyperthyroidism.
Pancreas
•The pancreas is a unique organ in that it has both endocrine (ductless) and exocrine (with duct)
types of tissue.
•The islets of Langerhans form the endocrine portion, alpha islet cells have the responsibility to
secrete glucagon, and beta islet cells secrete insulin.
•Insulin is essential for carbohydrate metabolism and is also important in the metabolism of both
fats and protein.
Type 1 Diabetes Mellitus
• Type 1 diabetes mellitus is a disorder that involves an absolute or relative deficiency of insulin,
which is in contrast to type 2, where insulin production is only reduced
•Type 1 diabetes is equal in incidence in boys and girls and affects approximately 1 of every 500
children and adolescents in the United States
•It is characterized by destruction of the pancreatic beta cells, which usually leads to absolute
insulin deficiency.
•Type 1 diabetes has two forms.
• Immune-mediated DM results from an autoimmune destruction of the beta cells; it typically starts in
children or young adults who are normal weight, but it can arise in adults of any age.
• Idiopathic type 1 refers to rare forms of the disease that have no known cause.
•Hereditary
• Children born to fathers with type 1 DM are about three times more likely to develop type 1 DM
(approximately 7% frequency) than children born to mothers with type 1 DM (approximately 2%
frequency)
Etiology
•The disease apparently results from immunologic damage to islet cells in susceptible individuals.
•Why autoimmune destruction of islet cells occurs is unknown, but children with the disorder
have a high frequency of certain human leukocyte antigens (HLAs), particularly HLA-DR3 and
HLA-DR4, located on chromosome 6, that may lead to susceptibility.
•If one child in a family has diabetes, the chance that a sibling will also develop the illness is
higher than in other families because siblings also tend to have one of the specific HLA that are
associated with the disease
Disease Process
•Insulin can be thought of as a compound that opens the doors to body cells, allowing them to admit glucose,
which is needed for functioning.
•If glucose is unable to enter body cells because of a lack of insulin, it builds up in the bloodstream
(hyperglycemia).
•As soon as the kidneys detect hyperglycemia, the kidneys attempt to lower it to normal levels by excreting excess
glucose into the urine, causing glycosuria, accompanied by a large loss of body fluid (polyuria).
•Excess fluid loss, in turn, triggers the thirst response (polydipsia), producing the three cardinal symptoms of
diabetes: polyuria, polydipsia, and hyperglycemia.
•Because body cells are unable to use glucose but still need a source of energy, the body begins to break down
protein and fat. If large amounts of fat are metabolized this way, weight loss occurs and ketone bodies, the acid
end product of fat breakdown, begin to accumulate in the bloodstream (creating high serum cholesterol levels
and ketoacidosis) and spill into the urine as ketones.
•Potassium and phosphate, attempting to serve as buffers, pass from body cells into the bloodstream. From there,
they are evacuated, causing a loss of these important electrolytes.
•Untreated diabetic children, therefore, lose weight, are acidotic due to the buildup of ketone bodies in their
blood, are dehydrated because of the loss of water, and experience an electrolyte imbalance because of the loss
of potassium and phosphate in urine.
•Because large amounts of protein and fat are being used for energy instead of glucose, children lack the
necessary components for growth; they therefore remain short in stature and underweight.
Assessment

•increased thirst and increased urination

•Laboratory studies usually show a random plasma glucose level
greater than 200 mg/dl (normal range, 70 to 110 mg/dl fasting; 90
to 180 mg/dl not fasting) and significant glycosuria
•Two diagnostic tests, the fasting blood glucose test and the random
blood glucose test, are used to confirm diabetes.
•A diagnosis of diabetes is established if one of the following three
criteria is present on two separate occasions:
• Symptoms of diabetes plus a random blood glucose level greater than
200 mg/dl
• A fasting blood glucose level greater than 126 mg/dl
• A 2-hour plasma glucose level greater than 200 mg/dl during a 75-g oral
glucose tolerance test (GTT)
•OGTT
• a GTT involves the oral ingestion of a concentrated glucose solution followed by blood glucose levels drawn at fasting
(baseline), after 1 hour, and after 2 hours
• The test is difficult for children to undergo because it requires them to fast for 8 hours, drink an overly sweet solution, and
submit to painful, intrusive procedures
• Do not take blood for glucose analysis from functioning IV tubing to try to help with pain because the glucose in the IV
solution will cause the serum reading to be abnormally high.

Other Diagnostic Tests

•an analysis of blood samples for pH, partial pressure of carbon dioxide (PCO2 )
•sodium, and potassium levels;
•a white blood cell count;
•a glycosylated hemoglobin (HbA1c) evaluation.
• Normally, the hemoglobin in red blood cells carry only a trace of glucose. If serum glucose is excessive, however, excess
glucose attaches itself to hemoglobin molecules, creating HbA1c. In nondiabetic children, the usual HbA1c value is 1.8 to
4.0. A value greater than 6.0 reflects an excessive level of serum glucose.
Therapeutic Management
•Therapy for children with type 1 diabetes involves five measures:
• insulin administration
• regulation of nutrition and exercise
• stress management
• blood glucose monitoring
• urine ketone monitoring.
 Insulin Administration
•Children can be regulated on a variety of insulin programs, but typically receive a combined insulin dose of 0.4
to 0.7 units per kilogram of body weight daily in two divided doses (one before breakfast and one before
dinner); adolescents may need as much as 1.2 units per kilogram daily divided into the two doses.
•The most common mixture of insulin used with children is a combination of an intermediate-acting insulin and a
regular insulin and given in the same syringe.
•The advantage of using two different types of insulin is that the peak effects occur at different times. The peak
time of short-acting insulins is 3 to 4 hours, while the peak effect period of the intermediate-acting insulin is 8
to 14 hour
•Nursing Responsibilities:
• Part of the education of parents is to allow them to vary their child’s insulin doses based on an insulin algorithm or
protocol influenced by the child’s level of activity and the size of meals consumed for that day.
• Teach parents that when insulins are mixed in one syringe.
• Insulin is always injected SC except in emergencies, when half the required dose may be given IV.
• Encourage children or parents to rotate sites in a pattern based on their planned activity
• Work out a plan of rotation with children so that everyone who will be giving injections knows what injection site should
be used next.
Insulin pumps
•insulin pump is an automatic device approximately the size of an iPhone.
•It delivers insulin at a constant rate, so it regulates serum glucose levels better than periodic
injections
•To use a pump, a syringe of regular insulin is placed in the pump chamber; a length of thin
polyethylene tubing leads to the child’s abdomen, where it is implanted into the subcutaneous
tissue of the abdomen by a small-gauge needle.
•Most children adjust well to pump therapy and prefer it to daily injections.
Nutrition
•An overall meal pattern should include three spaced meals that are
high in fiber plus a snack in the midmorning, midafternoon, and
evening to keep carbohydrate amounts as level as possible during the
day. Most parents need to meet with a nutritionist to discuss what a
“meal high in fiber” means, how to become adept at carbohydrate
counting, and what meals are best to serve to their age child.
Self Monitoring of Blood Glucose
•Children as young as early school age can learn the techniques of
finger puncture and reading a computerized monitor.
•Children are adolescents, however, before they can be counted on to
independently monitor their serum glucose levels on a daily basis.
Urine testing
•Urine testing is not used routinely but is used to test for ketonuria if
the child develops a gastrointestinal “flu” and is not able to eat.
•Acetone revealed by a test strip is a sign fat is being used for energy
or that the child is becoming acidotic.
Stress Adjustment
•When children are seen at healthcare facilities for periodic checkups, ask them whether they are having any
difficulty with blood testing or insulin injection and how things are at home and at school to detect their stress
level.
•Try to interview children separately from their parents, so they can feel free to talk about anything that may be
happening or going wrong.
•If a child is experiencing stress because of school, parents may have to meet with school officials to help them
view the child as well, not ill, so that they will allow participation in all activities, including sports.
•Sometimes, children are embarrassed to have to do blood glucose testing in school, especially in a public
lavatory. It may be easier for them if they can go to the nurse’s office for privacy when testing.
Pancreas Transplantation
•pancreas transplantation may be considered to prevent further damage
•pancreas is not removed entirely prior to transplant because the portion that supplies digestive enzymes is still
functioning and so is left in place
Type 2 Diabetes Mellitus
•characterized by diminished insulin secretion, is a separate disease from type 1 diabetes because it
is not caused by autoimmune factors
•children with T2D do not need daily insulin because their disease can be managed with diet alone
or with diet and an oral hypoglycemic agent.
•influencing factors: overweight school-aged children; strong family history of diabetes; children
from African, Hispanic, Asian, or Native Indian descent; those who eat a diet high in fats and
carbohydrates; and those who do not exercise regularly
•Assessment
• Children’s urine will show glucose but few ketones. Children experience lessened amounts of thirst or
increased urination.
• dark shiny patches on the skin (acanthosis nigricans), which are most often found between the fingers and
between the toes, on the back of the neck (“dirty neck”), and in axillary creases
Therapeutic Management
•proper nutrition and exercise
•the same as for type 1 diabetes, combined with an oral antiglycemic agent, which decreases the
amount of glucose produced by the liver and increases insulin sensitivity in both the liver and
muscle cells

Complications: atherosclerosis with thickening of arteries and capillaries, kidney disease, poor
healing ability, and blindness

Prevention
•children who develop T2D need good instruction in how to manage their illness so, whether they
are home with their parents supervising their care or away from home at camp or college, they
can prevent hyperglycemia and the irritation to blood vessels which that causes
Metabolic Disorders
Phenylketonuria
•PKU is a disease of metabolism, which is inherited as an autosomal recessive trait.
•The infant lacks the liver enzyme phenylalanine hydroxylase, which is necessary to convert
phenylalanine, an essential amino acid, into tyrosine (a precursor of epinephrine, T4 , and melanin).
•As a result, excessive phenylalanine levels build up in the bloodstream and tissues, causing permanent
damage to brain tissue and leaving children severely cognitively challenged.
•The metabolite phenylpyruvic acid (a breakdown product of phenylalanine) spills into the urine to give
the disorder its name.
•It causes urine to have a typical musty or “mousy” odor that is so strong that it often pervades not only
the urine but the entire child.
•As the disease progresses, because tyrosine is necessary for building body pigment and T4 , the child
becomes blue-eyed with very fair skin and light blonde hair. Without adequate T4 , the child fails to
meet average growth standards.
Assessment
•Urine has musty or “mousy” odor
•child fails to meet average growth standards
•Many children develop an accompanying seizure disorder
•skin is prone to eczema (atopic dermatitis)
•If the condition remains untreated, the child will be left with an IQ below 20, muscular
hypertonicity and spasticity, and possible recurrent seizures
•Diagnosis: screened at birth by blood spot analysis after receiving 2 full days of breast or formula
feedings (newborn screening)
Therapeutic Management
•The drug Sapropterin (Kuvan), which works by increasing tolerance to phenylalanine, has been approved by US FDA
for treatment
•To begin dietary regulation, infants in whom this disease is detected during the first few days of life are placed on a
formula that is extremely low in phenylalanine, such as Lofenalac
•A dietitian may recommend a mother who wants to breastfeed do so on a limited basis so the child does receive some
phenylalanine
•dietary management of PKU must consist of a balancing act between the child consuming enough nutrition to support
growth and development and not consuming enough protein to increase the blood phenylalanine level
•Children need their blood and urine monitored frequently for phenylalanine levels
•Hemoglobin levels should also be closely monitored to ensure the child is not becoming anemic
•Because the diet tends to be high in carbohydrates to replace protein, children need to be screened for obesity at
healthcare visits as well.
•Be certain to offer parents the opportunity to express their feelings about the difficulty of maintaining a young child
on such a restricted diet
•assess the child’s ability to cope with the illness because by the time they reach adolescence, they tend to grow very
tired of the constant testing and restrictive diet.
 Maple Syrup Urine Disease
•Maple syrup urine disease is a rare disorder, inherited as an autosomal recessive trait, in which there is a defect in
metabolism of the amino acids leucine, isoleucine, and valine, which leads to cerebral degeneration similar to that
observed in children with PKU.
•Infants who have the disorder appear well at birth but quickly begin to show signs of feeding difficulty, loss of the
Moro reflex, and irregular respirations.
•The symptoms progress rapidly to opisthotonos, generalized muscular rigidity, and seizures.
•If the condition remains untreated, an infant may die of the disease as early as 2 to 4 weeks of age
•the urine of the child develops the characteristic odor of maple syrup due to the presence of ketoacids on the first or
second day of life
•infants are screened at birth for the disorder
•Therapeutic Management
• child is placed on a well-controlled diet that is high in thiamine and low in the amino acids leucine, isoleucine, and valine,
cerebral degeneration can be prevented
• Parents need intensive nutritional counseling.
• Hemodialysis or peritoneal dialysis may be necessary to temporarily reduce abnormal serum levels at birth or during a
childhood infection
Galactosemia
•Galactosemia is a disorder of carbohydrate metabolism that is characterized by abnormal amounts of
galactose in the blood (galactosemia) and in the urine (galactosuria).
•transmitted as an autosomal recessive trait
•The child is deficient in the liver enzyme galactose-1-phosphate uridyltransferase
•Without the galactose 1-phosphate uridyltransferase enzyme, the conversion of galactose into glucose,
cannot take place, and galactose builds up in the bloodstream and spills out into the urine.
•When it reaches toxic levels in the bloodstream, it destroys body cells.
Assessment
• Symptoms appear as soon as the child begins formula or breastfeeding and include lethargy, hypotonia, and
perhaps diarrhea and vomiting
• Jaundice is often present and persistent, and bilateral cataracts develop
• a child may die by 3 days of age if untreated
• Untreated children who survive beyond this time may be cognitively challenged and have bilateral cataracts
Diagnosis
•measuring the level of the affected enzyme in the red blood cells
•A screening test (the Beutler test) can be used to analyze cord blood if a child is known to be at
risk for the disorder.

Therapeutic Management
•placing the infant on a diet free of galactose or giving the child formula made with milk
substitutes such as casein hydrolysates (Nutramigen)
Glycogen Storage Disease
•Glycogen storage disease refers to a group of genetically transmitted disorders that involve altered
production and use of glycogen in the body.
•Twelve of the 13 described types are inherited as autosomal recessive traits; the other is a sex-
linked disorder.
•In children with glycogen storage disease, glycogen is deposited normally, but an enzyme deficiency
prevents retransformation of the glycogen back to glucose.
•In one form of this disorder (type II, or Pompe disease), children deposit large stores of glycogen not
only in the liver but also in the muscle and heart. The muscles begin to feel hard on palpation due to
the deposits of glycogen. The heart becomes enlarged, and often, an arrhythmia will be present.
Assessment
• the abdomen protrudes
• the child’s growth will be stunted
• susceptible to periods of hypoglycemia because their only source of ready glucose is their oral intake
• development of gout from deposition of uric acid crystals in joints may also occur

Therapeutic Management
• Children with glycogen storage disease need to eat a high-carbohydrate diet with snacks between meals
to prevent hypoglycemia.
• In addition, a continuous glucose nasogastric or gastrostomy feeding during the night may be necessary
to prevent hypoglycemia while sleeping.
• Therapy with diazoxide (Proglycem), an antihypoglycemic drug that inhibits insulin release, may help
regulate the glucose level to provide additional growth.
• Liver transplantation may be a possibility, but it will not cure the basic enzyme deficiency.
Tay- Sachs Disease (Infantile GM2 Gangliosidosis
•Tay-Sachs disease is an autosomal recessively inherited disease in which the infant lacks hexosaminidase A, an enzyme
necessary for lipid metabolism.
•Without this enzyme, lipid deposits accumulate on nerve cells, leading to severe cognitive challenge, due to deposits on
brain cells, and blindness, due to deposits on optic nerve cells
•Children generally appear well in the first few months of life except for an extreme Moro reflex and mild hypotonia.
•If left untreated, at about 6 months of age, they begin to lose head control and are unable to sit up or roll over without
support.
•On an ophthalmoscopic examination, a characteristic cherry-red macula is noticeable (caused by lipid deposits).
•By 1 year of age, children will have developed symptoms of spasticity and are unable to perform even simple motor
tasks.
•By 2 years of age, generalized seizures and blindness will have occurred.
•Most children die of cachexia (malnutrition) and pneumonia by 3 to 5 years of age.
•There is no cure for Tay-Sachs disease.
•The disorder may be detected in utero by amniocentesis. Carriers for the disease trait may be identified by
hexosaminidase.