Steroid 5-alpha-reductase 2 deficiency

In an oral pre- and post-natal development study in rats, dutasteride doses of , , , or 30 mg/kg/day were administered. Unequivocal evidence of feminization of the genitalia (., decreased anogenital distance, increased incidence of hypospadias, nipple development) of male offspring occurred at 14- to 90-fold the MRHD (animal doses of mg/kg/day or greater). At -fold the expected clinical exposure (animal dose of mg/kg/day), evidence of feminization was limited to a small, but statistically significant, decrease in anogenital distance. Animal doses of to 30 mg/kg/day resulted in prolonged gestation in the parental females and a decrease in time to vaginal patency for female offspring and a decrease in prostate and seminal vesicle weights in male offspring. Effects on newborn startle response were noted at doses greater than or equal to mg/kg/day. Increased stillbirths were noted at 30 mg/kg/day.

The disorder has been found in blacks, whites, American Indians, and Latin Americans, as well as in families from Malta, Jordan, and Pakistan. Imperato-McGinley et al. (1991) described a cluster of male pseudohermaphrodites in the Simbari Anga linguistic group in the Eastern Highlands of Papua New Guinea. Their studies revealed a phenotypic and biochemical profile similar to that in patients studied in the Dominican Republic, except for a greater abundance of facial and body hair. DHT is responsible for masculinization of the external genitalia of the fetus and for masculinization at puberty. The virilization at puberty in PPSH may be related to the facts that the reductase is not completely absent and that low levels of DHT are found in plasma.

In April 2014, the BMJ reported that four elite women athletes with 5-ARD were subjected to sterilization and "partial clitoridectomies" in order to compete in sport. The authors noted that "partial clitoridectomy" was "not medically indicated, does not relate to real or perceived athletic “advantage,"" relating to elevated androgen levels. The athletes were all from developing countries where lifetime access to hormone replacement may prove elusive. [9] Intersex advocates regard this intervention as "a clearly coercive process". [10]

Steroid 5-alpha-reductase 2 deficiency

steroid 5-alpha-reductase 2 deficiency


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