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Disorders of Sexual Development

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315 views

Disorders of Sexual Development

Uploaded by

actionbeam08
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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DISORDERS OF SEXUAL

DEVELOPMENT
Definition

 Defined as the presence of both male and


female external and or internal genital organs
in the same individual causing confusion in
the diagnosis of true sex.
Determination of sex
 Genetic sex – XX, XY
 Chromosomal sex – Barr Body
 External & internal anatomical sex –shape of
body, distribution of hair, dev. Of breast, external
genitalia,uterus & fallopian tubes.
 Gonadal sex – ovaries & testis
 Hormonal sex
 Psychological sex – behaviour, speech & dressing
 Sex of rearing – Environment & upbringing
Clinical diagnosis of sex

 External appearance
 A man – broad shouldered, more hirsute (face & chin),
hair is coarser, his nature is more aggressive & robust,
voice deep & sexual instincts are heterosexual.
 A woman – narrow shoulders, broad hips, fine abundant
scalp hair, more delicately modelled features, soft voice,
inverted triangular pattern of pubic hair, nature is less
aggressive & sexual instincts are heterosexual.
 External Genetalia & Internal Genetalia
Classification of DSD
 Sex chromosome DSD (45X, 46X/46XY, 46XX/46XY, 47XXY)
 46 XY DSD (Disorders of testicular development/
function)
 Gonadal dysgenesis (complete/partial)
 Ovotetsticular DSD
 Disorders of androgen action
 46 XX DSD (Disorders of ovarian dev. Or function)
 Dysgenesis
 Androgen excess
 OTHERS : mullerian agenesis/hypoplasia
45 XO Sex Chromosome DSD

GONADAL DYSGENESIS (45 XO DSD)


 Congenital developmental disorder in the
male or female.
 Atypical development of the gonads in
an embryo, with reproductive tissue replaced
with functionless, fibrous tissue - streak
gonads
Causes

 Pure gonadal dysgenesis 46,XX


 Pure gonadal dysgenesis 46,XY
 Mixed gonadal dysgenesis (partial gonadal
dysgenesis), and 45,X/46,XY mosaicism
 Turner syndrome - 45,X or 45,X0
 Endocrine disruptions
46,XX Gonadal Dysgenesis
 female hypogonadism
 Streak ovaries
 Low levels of oestrogen effect the HPG axis with
no feedback to the anterior pituitary to inhibit
the secretion of FSH and LH.
 Failure to initiate puberty,
undergo menarche, and
develop 2ry sex characteristics.
46,XY Gonadal Dysgenesis

 Male hypogonadism
 In embryogenesis, the development of the
male gonads is controlled by the testis
determining factor located on the sex-
determining region of the Y
chromosome (SRY).
 The male gonad is dependent on SRY gene.
 Absence of SRY gene - deficiency
in testosterone and Anti-Müllerian
hormone production
TURNER’S SYNDROME
 ovarian agenesis or gonadal dysgenesis
 Short arm of X chromosome is deleted or the
nucleus possess only 45 chromosomes (22 pairs of
autosomes + sex chromosome XO)
 The absence of Y chromosome resembles the
female but these pts are like males, chromatin
negative (nuclei – no nuclear satellite body, no
drumsticks in the neutrophils)
 Incidence 1:2000 to 1:5000
 70-90% of pregnancies with XO chromosome
abort in early weeks of gestation.
 Characterised by
 Short stature, webbing of the neck, low set ears
 Cubitus valgus, broad shield chest, high palate
 Low hair line on the neck
 Deformities of the digits
 Micrognathia, high arched palate
 Mentally retarded
 Coarctation of aorta
 Renal anomalies (Horse Shoe kidneys)
 Poor dev. Of 2ry sexual characteristics
 Vagina, uterus (small) & fallopian tubes present
 Gonads – streaks, without any follicles
 Associated autoimmune diseases
 Hypothyroidism
 Diabetes.
Investigations

 Sex chromatin study – negative


 Karyotype – 45XO
 Serum E₂ is very low
 Serum FSH & LH – elevated
Klinefelter’s syndrome (47XXY DSD)
 1 : 500 males
 Pt – Eunuchoid, mentally defective
 Infertile with small penis, testis & gynaecomastia
 Voice is high pitched
 Sex chromatin +ve
 Karyotype – 47 XXY or 48 XXXY
 Serum gonadotropins – elevated
 Infertility – Oligoazoospermia
 Psychological abnormalities, breast cancer & Diabetes
 Serum Testosterone – low
 Testicular biopsy – hyaline degeneration of the
46 XY DSD
ANDROGEN INSENSITIVITY SYNDROME
(Testicular feminization)
 Rare inherited form of male
pseudohermaphroditism
 It occurs in phenotypically normal women with
 adequate breast development,
 normal external genitalia,
 a vagina of variable depth,
 absent uterus,
 and sparse or absent pubic hair and axillary hair.
 These patients have male karyotype (XY)
and negative sex chromatin.
 The gonad (undescended testis) may be
intraabdominal, inguinal, or labial
 Based on these AIS may be –

 Complete variety - external genitalia are


those of a typical female
 Mild variety - external genitalia are those
of a typical male
 Incomplete variety – the external
genitalia are partially, but not fully,
masculinized
 Enuchoidal
 Adequate breast development & nipples are small
 Absent or sparse axillary & pubic hair
 Ext. Genetalia looks like female
 Primary amenorrhoea or infertility
 The vagina – short & blind, upper 2/3 of the
vagina, uterus & tubes are absent due to the
effect of AMH.
 5α-reductase enzyme deficiency or androgen
receptor
Investigations
 Sex chromatin – negative
 Karyotype – 46XY
 Postpubertal testosterone - elevated
 Luteinizing hormone - elevated
 Estradiol levels – elevated
 Conversion of testosterone to
dihydrotestosterone may be impaired
46 XY DSD (Swyer’s Syndrome)
 Male pseudohermaphrodite
 Complete gonadal dysgenesis (46XY)
 External genetalia & Internal genital organs –
female
 Secondary sexual characteristics – absent
 Primary amenorrhoea
 Hypergonadotropic hypogonadism
 Testis is absent
 Streak gonads fail to produce androgens
 Pregnancy is possible with IVF
PATHOGENESIS

 When SRY gene is defective, the indifferent gonads fail to


differentiate into testes in an XY fetus.
 Without testes, no testosterone or antimüllerian hormone
(AMH) is produced.
 Without testosterone, the wolffian ducts fail to develop, so
no internal male organs are formed.
 Lack of testosterone - no dihydrotestosterone -
external genitalia fail to virilize, resulting in normal female
genitalia.
 Without AMH, the Müllerian ducts develop into normal
internal female organs (uterus, fallopian
tubes, cervix, vagina).
TRUE HERMAPHRODITISM

 Ovotesticular Disorders (46XYDSD)


 Common – Bantu tribes in Southern part of
Africa
 Types – both the testicular & ovarian tissues
are present
 Testis on one side, ovary on the other side
 Testis or ovary on one side & ovotestis on other side
 Presentation –
 Ambiguity of ext. Genetalia
 The int. Structures dev. Depends
upon gonad on that side
 Vagina & uterus present
 75% develop gynaecomastia
 50% menstruate
 INVESTIGATIONS
 Sex chromatin – positive
 Karyotype – 46 XX or 46 XY
 Gonadal biopsy – to confirm the diagnosis
46 XX, DSD
AS - characterized by the tendency for the dev.
Of 2ry sexual characteristics of opposite sex.
Ambiguous genitalia Clitoris Hypertrophy
Investigations
 USG – presence of uterus, fallopian tubes &
vagina.
 Sex chromatin study - +ve Barr body
 Karyotype – 46XX
 Serum estimation
 17 Hydroxyprogesterone (17-OHP) - , > 800 ng/dL
 Serum electrolytes
DIAGNOSIS OF DSD
 AT BIRTH
 Ambiguous Genetalia – CAH
 Androgenic drugs administer to the mother in early
pregnancy
 AT PUBERTY
 CAH
 Gonadal Dysgenesis
 Poor dev. Of 2ry sexual characteristics
 Primary amenorrhoea with or without hirsutism.
Management
 Congenital adrenogenital syndrome –
hydrocortisone/dexamethasone. Clitoroplasty.
 Gonadal dysgenesis – treated with oestrogen &
progesteron
 AIS – Gonadectomy
 True Hermaphrodite – genitalia should be
surgically removed or modified

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