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Pathophys and Cause ⬇

Cause:Mosaicism (XY and XO) or "silent Y," ie, end-organ resistance; sex-linked recessive

Pathophys:Mutant X or autosomal chromosome operon gene turns off Y (Nejm 1970;283:6); streak gonads

Epidemiology ⬆ ⬇

Rare

Signs and Symptoms ⬆ ⬇

Si:Spectrum of female genotype with sterility, to Turner's syndrome (see below), to female with clitoromegaly, to male with hypospadia

Complications ⬆ ⬇

Gonadal malignancy esp if Y present (Nejm 1972;287:628)

Lab and Xray ⬆ ⬇

Lab:

Path:Chromosome preps show chromatin, ie, Barr body-negative

Treatment ⬆

Rx:Estrogens, but increased incidence of endometrial cancer, which cycling w progesterone should prevent

Surgical removal of any streak gonad in all mosaics