Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism.
Level 4 - case-series / case-control
Clinical and biochemical case series characterizing an inherited disorder
PubMed 4432067 · doi:10.1126/science.186.4170.1213
What was done
Biochemical evaluations were performed in male pseudohermaphrodites born with ambiguous external genitalia who underwent virilization at puberty to characterize steroid 5alpha-reductase activity, hormone levels, and the mode of inheritance.
What was found
The abstract reports no numerical values. It reports a marked decrease in plasma dihydrotestosterone secondary to decreased steroid 5alpha-reductase activity, which causes incomplete in utero masculinization of the external genitalia, transmitted via autosomal recessive inheritance.
Why it matters
This paper identifies 5alpha-reductase deficiency as a genetic cause of male pseudohermaphroditism and demonstrates the essential role of dihydrotestosterone in male external genital differentiation.
Limits
The abstract does not report sample size, quantitative hormone or enzyme measurements, patient demographics, or comparative control data.
Cited by
- supports Individuals with congenital 5-alpha reductase deficiency have normal testosterone production and normal muscle mass, but experience impaired genital development, reduced facial hair, and no temporal hairline recession.