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 …

Two brothers of Greek Cypriot origin, karyotype 46 XY, aged 17 and 19 years were brought
up as females because of predominantly female external genitalia with clitoromegaly and …

The enzyme steroid 5 alpha-reductase, via NADPH, catalyses the conversion of testosterone
to dihydrotestosterone, which is required for the embryonic differentiation of the external …

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 …

Dihydrotestosterone is a potent androgen metabolite formed from testosterone by action of
5α-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a disorder of 46, XY sex …

Virilization in mammals is mediated by two steroid hormones, testosterone and
dihydrotestosterone. Both hormones bind to a typical steroid hormone receptor, the …

The present report describes a cluster of eight patients with male pseudohermaphroditism
from a large pedigree with steroid 5 alpha-reductase 2 deficiency (5 alpha RD), who reside …

A new inherited form of male pseudohermaphroditism has been investigated in a pedigree
of 24 families with 38 affected males. At birth, the affected males (46 XY) have a clitoral-like …

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 …

To investigate the enzymatic basis for abnormal steroid metabolism in subjects with male
pseudohermaphroditism due to 5α‐reductase deficiency, the ring A reduced urinary 5β and …