Anomalous Sexual Development

Posted by e-Medical PPT Thursday, August 4, 2011
Classification of Anomalous Sexual Development
Disorders of Gonadal differentiation
Seminiferous tubule dysgenesis (Klinefelter’s syndrome)
Syndrome of gonadal dysgenesis & its variants (Turner’s syndrome)
Complete & incomplete forms of XX & XY gonadal dysgenesis
True hemaphroditism

Female Pseudohermaphroditism
Congenital virilizing adrenal hyperplasia
Androgens & synthetic progestins transferred from maternal circulation
Malformations of intestine & urinary tract (nonadrenal femalepseudohermaphroditism.)
Other tetralogic factors

Male Pseudohermaphroditism
Testicular unresponsiveness to hCG & LH (Leydig cell agensis or hypoplasia).

Inborn errors of testosterone biosynthesis:
Enzyme defects affecting synthesis of both corticosteroids & testosterone (variants of congenital adrenal hyperplasia
P-450 scc (Cholesterol side-chain cleavage) deficiency (Congenital lipoid adrenal hyperplasia)
3(B)-hydrooxysteroid dehydrogenase 5 isomerase deficiency
P-450c17 (17(a)-hydroxylase) deficiency.

Defects in androgen-dependent target tissue:
End-organ resistance to androgenic hormones (androgens receptor & postreceptor defects).
Syndrome of complete androgens resistance & its variants (testicular feminization & its variant forms)
Syndrome of incomplete androgen resistance & its variants (Reifenstein’s syndrome)
Androgen resistance in phenotypically normal males

Defects in testosterone metabolism by peripheral tissues; 5(a)-reductance deficiency (pseudovaginal perineoscrotal hypospadias).

Dysgenetic male pseudohermaphroditism:
X chromatin-negative variants of the syndrome of gonadal dysgenesis (eg. XO/XY,XYp-).
Incomplete form of XY gonadal dysgenesis.
Associated with degenerative renal disease (Wilms’ tumor-aniridia-gonadoblastoma-mental retardation syndrome).
“Vanishing testes” (embryonic testicular regression XY agonadism    XY gonadal agenesis      rudimentary testes    anorchia).

Defects in synthesis, secretion, or response to mulleran duct inhibitory factor: female genital ducts in otherwise normal men – “ uteri herniae inguinale”; persistent mullerian duct syndrome.

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