L. Milewich et al., WOMEN WITH STEROID 5-ALPHA-REDUCTASE-2 DEFICIENCY HAVE NORMAL CONCENTRATIONS OF PLASMA 5-ALPHA-DIHYDROPROGESTERONE DURING THE LUTEAL-PHASE, The Journal of clinical endocrinology and metabolism, 80(11), 1995, pp. 3136-3139
Steroid 5 alpha-reductase 2 deficiency has been identified in two adul
t women from unrelated families, one a homozygote and the other a comp
ound heterozygote. The homozygote carries the G183S mutation and is th
e sister of an affected male; the compound heterozygote (R246W/splice
junction abnormality) is married to a heterozygote (splice junction ab
normality) and is the mother of two compound heterozygotes and two hom
ozygotes. The fact that these two women are the mothers of seven child
ren and appear to be endocrinologically manifest in women. Concentrati
ons of plasma 5 alpha-dihydroprogesterone were normal in these two wom
en during the luteal phase; this finding implies that circulating 5 al
pha-dihydroprogesterone in women is derived principally from the stero
id 5 alpha-reductase 1 isoenzyme and leaves unresolved the question of
whether 5 alpha-dihydroprogesterone plays a physiological role in wom
en.