Cause:Mosaicism; double fertilization?, or faulty postconceptual mitosis?

Pathophys:XX/XY mosaics in tissues; both testicular and ovarian tissues develop in same individual

Rare; most appear as questionable males at birth and are raised as such

Si:Ambiguous but partially virilized external genitalia; hypospadia very common; inguinal hernia (43%); gynecomastia at puberty (80%)

r/o TESTICULAR FEMINIZATION (Male Pseudohermaphroditism) (Nejm 2004;350:367); rare, genetic, multiple types; all have XY karyotype and intraabdominal testes; may be due to 5-reductase deficiency, which converts testosterone to dihydrotestosterone in testicular or sexual end organs; spectrum from female phenotype with uterus and pubertal feminization, to REIFENSTEIN'S SYNDROME(male phenotype with hypospadia and gynecomastia), to normal male with infertility and high testosterone and LH levels from tissue resistance (Nejm 1979;300:223); often raised as girls to puberty then change; buccal smear negative for Barr bodies, XY karyotype; urinary 17-KS and estrogen levels show normal male pattern but low dihydrotestosterone levels postpuberty; rx w vaginal reconstruction, hypospadia repair, etc

Lab:

Path:Wolffian and Müllerian remnants coexist, often unilateral female and other side is male

Chromosome preps: 80% of patients are chromatin, ie, Barr body-positive

Rx:Complicated medically and socially; usually need tertiary care center