Congenital 5 Alpha-Reductase Deficiency and Hair Loss
Tuesday, September 23rd, 2008
DHT or dihydroxytestosterone is a byproduct of testosterone that causes hair loss in men who are prone to baldness. Another negative effect of DHT is increasing the incidence of prostate enlargement and prostate cancer. Other than above effects, no other major physiologic function is known for the hormone DHT in adult males.
During infancy and childhood, DHT accelerates the development of male genital organs. This effect of DHT stops when a male external genitalia matures completely.
By using 5 alpha reductase inhibitor medications such as finasteride in medical hair restoration, we can block the enzyme to slow down the process of baldness in men and prevent prostate enlargement in elder men.
There is a congenital disorder in which the enzyme 5 alpha reductase is lacking that leads to the lack of DHT production. Congenital 5 alpha-reductase deficiency is also known as familial incomplete male pseudohermaphroditism type 2, seudovaginal perineoscrotal hypospadias, 5-ARD, 5-alpha-reductase type 2 deficiency, ambiguous genitalia or male pseudohermaphroditism.
Deficiency of the type 2 isozyme 5-alpha-reductase, which transforms testosterone to DHT is the cause of this disorder. DHT major role is in development of male fetus external genital organs and without that effect male newborn can develop immature or ambiguous external genitalia.
Diagnosis of congenital 5 alpha-reductase deficiency is through testing the testosterone to Dihydrotestosterone level. Elevated ratio is an indication of 5 alpha-reductase deficiency. The Level of testosterone is also elevated. There is also alteration in HCG stimulation test. In congenital alpha reductase deficiency male fetus develops a female phenotype without presence of uterus.
Congenital 5-alpha reductase deficiency could be treated to some degrees and the symptoms could be controlled with high doses of testosterone to make the deficient enzyme make normal or close to amount of DHT in this patients.

