Steroid 5 alpha-reductase 2 deficiency has been identified in two adult women from
unrelated families, one a homozygote and the other a compound heterozygote. The�…

Two isozymes of steroid 5 alpha-reductase encoded by separate loci catalyze the
conversion of testosterone to dihydrotestosterone. Inherited defects in the type 2 isozyme�…

Steroid 5α-reductase 2 deficiency is an autosomal recessive form of male
pseudohermaphroditism caused by mutations in the SRD5A2 gene. In this study, we�…

Male pseudohermaphroditism due to steroid 5α‐reductase deficiency is the consequence of
mutations in the gene encoding the type 2 isoenzyme. Most (60%) affected subjects have�…

I. Introduction B ETWEEN 1968 and 1973 a large body of evidence accumulated in our
laboratory and by others demonstrated that the conversion of testosterone to�…

This report describes the identification of a point mutation in the 5α‐reductase type 2 (5α‐
SR2) gene from a family in which both sibs (6 and 3 years old) have steroid 5α‐reductase 2�…

The peripheral plasma concentrations of progesterone and 5α-pregnane-3, 20-dione were
measured daily throughout the ovarian cycle of five presumptively ovulatory women. The�…

The effects of a number of steroids on the conversion of progesterone to 5α-
dihydroprogesterone by hypothalamic and pituitary progesterone 5α-reductase have been�…

We report a 65-yr-old male pseudohermaphrodite with steroid 5α-reductase deficiency in
whom there was no medical intervention before, during, or after puberty, enabling us to�…

The biochemical and physiologic manifestations of decreased 5 alpha-dihydrotestosterone
(DHT) in females are characterized. Three females from the large Dominican kindred with 5�…