Dr Enwereji J O(MBBS,

FWACS,FMCOG)
DEFFINITION
Puberty is the period between childhood and adulthood when
reproductive and sexual development and maturation occurs.
Anatomical and Physiological changes that occur are the following:
• Breast Development- Thelarche
 Pubic Hair Growth- Adrenarche
 Axillary Hair Growth
 Growth Spurt
 Onset of Menstruation- Menarche
 Psychology and Emotional Behavioural changes
• The average age of menarche is 12.3 years for African girls and
12.8 years for the Caucasians.
• In childhood the hypothalamic- pituitary-ovarian axis remains
quiescent, GnRH , FSH and LH are almost undetectable in the
blood.
• Onset of puberty is influenced by heredity, race , ethnicity ,
gender, body weight, fat mass composition, nutrition, and exercise.
• Leptin is also important in development of puberty.
• The degree of breast and pubic hair development is described in 5
stages(after Marshall ad Tanner). We have Tanner stages 1,2,3,4
and 5.
• Between 7-9 years the Frequency and Amplitude of is increased.
• This leads to the production of FSH and LH. This leads to
Follicular growth and Steroidogenesis in the ovary. These
lead to Estrogen production, that leads to Breast budding.
Breast growth is the first sign of puberty. Breast growth
precedes menses by 2-3 years.
• The appearance of Pubic Hair in girls is purely dependent
on the Adrenal Androgen production. This is not
dependent on the Pituitary- Ovarian maturation.
• Adrenarche usually follows Thelarche by a few months.
The reverse is also true.
• At this time there is general increase in the production of
Growth Hormone, leading to growth spurt.
• PRECOCIOUS PUBERTY: Attainment of puberty before 8 years in
girls and 9 years in boys. Precocious puberty is commoner in girls
than boys in the ratio of 5:1
• Precocious puberty is divided into: Central , Gonadotrophin-
Dependent or True Precious puberty and Peripheral precocious or
Pseudopuberty.
• Central- 80% of all the cases, due to brain tumours or central
nervous system malformations or idiopathic.
• Peripheral-20% of all the cases, always pathological. It is caused by
hormone producing ovarian tumours, exogenous administration of
oestrogens and McCune Albright Syndrome.
• McCune Albright Syndrome- polyostotic fibrous dysplasia,café-au-
lait skin lesions and Gonadotrophin- Independent Precocious Puberty.
• Investigations:
• Serum Gonadotrophin levels- FSH and LH . They are low
in peripheral causes and high in central causes.
• Brain Imaging- to detect lesions in the brain eg tumours
or hamartomas.
• Pelvic and Abdominal Imaging for ovarian or adrenal
tumours.
• Treatment- Usually done by Paediatric Endocrinologist.
Aim of treatment is to slow down growth velocity. GnRH
Analogues are usually given to decrease the production of
FSH and LH. Tumours are surgically removed.
DELAYED PUBERTY
• Delayed puberty is the absence of all the secondary
sexual characteristics by the age of 14 years. It is either
due to a Central Dysfunction or nonfunctional gonads.
Hypo gonadotrophic hypogonadism or hyper
gonadotrophic hypogonadism.
• Hypogonadotropic hypogonadism- No hypothalamic or
pituitary stimulation of the gonads and low FSH.
• Causes: constitutional delay, chronic illnesses like
diabetes, chronic renal failure, cystic fibrosis, anorexia
nervosa, excessive exercise,Kallman Syndrome,
HYDROCEPHALUS, CNS tumours esp. prolactinomas and
pan- hypopuititarism.
Hypergonadotropic hypogonadism
• Nonfunctional gonads with high FSH- Abnormal gonadal
development, Turner syndrome, Premature ovarian failure,
Galactosaemic, Autoimmune disorders and Infections.
• Management: History and examination very important.
• Treatment: 2ug of Ethinylestradiol is given every night
and increased every 6 months until vaginal bleeding
occurs. Then she is given standard combined Estrogen and
Progesterone preparations(COCP). For hypogonadotrophic
hypogonadism puberty can be induced by pulsatile
gonadotrophins administered via subcutaneous pump
Long term hormone replacement is required, either in the form of
COCP or HRT.
KALLMAN SYNDROME:
Incidence- Female to Male ratio= 7:1
Female- 1:7500
Male- 1:50 000
Genetics- X – linked disorder owing to a mutation to kal-1 gene.
Pathophysiology- Dysgenesis of the olfactory bulbs and abnormal
development of GnRH Neurons which also originate from the nasal
region during embryogenesis
Clinical Features: delayed puberty, Anosmia or hyposmia, midline
structural defects and mental restriction.
• TURNER SYNDROME: female phenotype
• Incidence: 1:2500 female births
• Genetics- 45xo
• Prenatally- Cystic hygroma, non-immune hydrops fetalis and fetal
growth restriction.
• Postnatally- short stature, their adult height is 20cm below average,
gonadal failure before or after menarche
• Widely spaced nipples, short webbed neck, low hair line,
lymphoedema, coarctation of the aorta and hose-shoe kidney,
hypothyroidism, insulin resistance
• Diagnosis- 45xo, remember mosaicism.
• Treatment:
• (a)administration of Growth Hormone to improve adult
height
• (b)Induction of puberty and long-term HRT. Childbearing
is possible with ovum donation.
SWYER SYNDROME
Incidence is unknown
Genetics-46XY, mutation in Sry gene in 10%. 90% is
unknown.
Clinical Features-
Gonadal Dysgenesis- failure of the testis to develop in
embryonic life, no testosterone is produced or anti-
Mullerian hormone, external genitalia of the female, uterus
and fallopian tubes are present, absence of pubertal
changes, tall stature, 30% risk of development of gonadal
malignancy( dysgerminoma) at any age.
• Diagnosis- karyotype of 46XY. Search for mutation in Sry
gene.
• Treatment: Induction of puberty, gonadectomy as there is
risk of malignancy, long term hormone replacement.
Childbearing is possible with ovum donation.
• THANK YOU