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15,22,59 The disorder has an autosomal recessive inheritance and is rare. Most reported cases come from family clusters found in three relatively isolated geographic locations in the Dominican Republic, southern Turkey, and Papua New Guinea. Affected males typically are phenotypically female with female to ambiguous external genitalia at birth (pseudovaginal perineoscrotal hypospadias). The small clitoris-like phallus lacks a urethral orifice. In most affected individuals the urogenital sinus opens on the perineum and within the sinus an anterior orifice leads to the urethra and a posterior orifice to a blind vaginal pouch.

N Engl J Med 326:466-471 Hall JC, Gilchrist DM (1990) Turner syndrome and its variants. Pediat Clin North Am 37: 1421-1440 Harley VR, Jackson DI, Hextall PJ, Hawkins JR, Berkovitz GD, Sockanathan S, Lovell-Badge R, Goodfellow PN (1992) DNA binding activity of recombinant SRY from normal males and XY females. Science 255: 453--456 Hudson PL, Dougas I, Donahoe PK, Cate RL, Epstein J, Pepinsky RB, MacLaughlin DT (1990) An immunoassay to detect human miillerian inhibiting substance in males and females during normal development.

49 The karyotype is usually 47 XXY which, in most cases, results from nondysjunction occurring during meiosis of either paternal or maternal gametes. Less frequently, a 47 XXY/46 XY mosaic karyotype is found, caused by nondysjunction during mitosis of the developing zygote. The diagnosis is usually first suspected at adolescence when the patient presents with gynecomastia, obesity, or signs of eunuchism. The testes are small. The beard and body hair frequently are sparse. Most patients are tall with long legs resulting in a diminished upper lower body segment ratio.

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