Steroid 5 alpha-reductase deficiency in man an inherited form of male pseudohermaphroditism

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]

Micropenis refers to an extremely small penis with a stretched penile length of less than SD below the mean for age or stage of sexual development. It should be differentiated from a buried or hidden penis and aphallia. It is important to use a standard technique of stretched penile measurement and nomograms for age to identify children with micropenis. All children above 1 year of age with a stretched penile length of less than cm need evaluation. Based on etiology they can be classified as hypogonadotropic hypogonadism (hypothalamic or pituitary failure), hypergonadotropic hypogonadism (testicular failure), partial androgen insensitivity syndrome and idiopathic groups. The help of a pediatric endocrinologist, geneticist, pediatric surgeon and/or urologist is often necessary. Growth velocity is an important determinant of associated hypothalamic or pituitary pathology. GnRH and/or hCG stimulation tests are often helpful in evaluating the etiology. Similarly chromosomal studies are indicated in a few. Often the diagnosis is inferred by the presence of clinical features suggestive of a syndrome usually associated with hypogonadotropic hypogonadism. Irrespective of the underlying cause a short course of testosterone should be tried in patients with micropenis and an assessment of the penis to respond should be made. Transdermal DHT has also been reported to be effective in prepubertal children. Children with hypopituitarism and GH deficiency respond to appropriate hormonal therapy. Surgical correction is not indicated in the common endocrine types of micropenis. Many studies have shown that most testosterone treated children have satisfactory gain in length of penis and sexual function. Thus sexual reassignment is done very infrequently now.

The second isoenzyme of 5α reductase is deficient in the classic intersex condition ( pseudovaginal perineoscrotal hypospadias ), or 5α-reductase deficiency . It was first discovered in indigenous cultures of Papua, New Guinea , where children were born with feminine genitalia in the absence of endogenous DHT during pregnancy, but with the surge of testosterone during adolescence, changed to males at puberty. Because of this change at puberty, the condition is also sometimes called " guevedoche ." [24] There is a range of external appearance that has been described of external genitalia at birth, with varying degrees of virilization.

Steroid 5 alpha-reductase deficiency in man an inherited form of male pseudohermaphroditism

steroid 5 alpha-reductase deficiency in man an inherited form of male pseudohermaphroditism

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