intersex syndrome

intersex syndrome

Intersex disorder A group of clinical complexes that occur in subjects with ambiguous genitalia. See Female pseudohermaphroditism, Male pseudohermaphroditism, Mixed gonadal dysgenesis, Pure gonadal dysgenesis, True pseudohermaphroditism.

Intersex syndromes

Female pseudohermaphroditism Ovaries are present, but the infant is masculinized by in utero androgen exposure during fetal development–maternal ingestion or the result of congenital adrenal hyperplasia with virilization

Gonadal dysgenesis Underdeveloped or imperfectly formed gonads; the prototypic gonadal dysgenesis is Turner syndrome 45, X0, seen in 1/2-7000 female births Clinical Short stature, webbed neck, cubitus valgus, micrognathia with high arched palate, epicanthal folds, lymphedema of the hands and feet, aortic coarctation, renal malformation, osteoporosis, diabetes, widely-spaced nipples, sexual infantilism Pathology Ovaries are small and thin–'streak' ovaries; a variant, mixed gonadal dysgenesis is characterized by a mosaic phenotype 45,X/46,XY, and a streak ovary on one side and a testis or germ cell tumor on the other side, accompanied by intense virilization

Male pseudohermaphroditism Testicles are present and cryptorchid, but testosterone production is inadequate–due to ↓ LH or hCG receptors on the Leydig cells; Pts are raised as ♀–Morris syndrome and may have defects of the CNS, eg defective gonadotropin response, primary gonadal defects, eg idiopathic, defective pregnanediol–3-β 17-α, 17,20 des and 17 β synthesis, regression of müllerian tubes, Leydig cell agenesis, androgen insensitivity, ↑ susceptibility to breast cancer, Sertoli adenoma, germinoma in situ, seminoma, Leydig cell tumor

True hermaphroditism Gonads contain both ovarian and testicular tissue, genotypically either 46, XX or 46, XY; 75% are raised as ♂; the testicular tissue is dysgenic, doesn't produce sperm and may undergo malignant degeneration–requiring prophylactic removal; ovarian function in those raised as ♀ may be adequate to produce term pregnancy