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    Disorders of Sexual Development

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    Disorders of Sexual Development

    Uploaded by

    actionbeam08
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    Disorders of Sexual Development - PPT

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    66 views41 pages

    Disorders of Sexual Development

    Uploaded by

    actionbeam08

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    of 41

    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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