WOMEN WITH STEROID 5-ALPHA-REDUCTASE-2 DEFICIENCY HAVE NORMAL CONCENTRATIONS OF PLASMA 5-ALPHA-DIHYDROPROGESTERONE DURING THE LUTEAL-PHASE

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.