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 adult women from unrelated families, one a homozygote and the other a compound heterozygote. The homozygote carries the G183S mutation and is the sister of an affected male; the compound heterozygote (R246W/splice junction abnormality) is married to a heterozygote (splice junction abnormality) and is the mother of two compound heterozygotes and two homozygotes. The fact that these two women are the mothers of seven children and appear to be endocrinologically normal confirms the previous deduction that this disorder is not manifest in women. Concentrations of plasma 5 alpha-dihydroprogesterone were normal in these two women during the luteal phase; this finding implies that circulating 5 alpha-dihydroprogesterone in women is derived principally from the steroid 5 alpha-reductase 1 isoenzyme and leaves unresolved the question of whether 5 alpha-dihydroprogesterone plays a physiological role in women.
Milewich
L
L
Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas 75235, USA.
Mendonca
B B
BB
Arnhold
I
I
Wallace
A M
AM
Donaldson
M D
MD
Wilson
J D
JD
Russell
D W
DW
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D043582:5-alpha-Dihydroprogesterone; D000328:Adult; D005260:Female; D006801:Humans; D008183:Luteal Phase / Q000097:blood*; D008297:Male; D009154:Mutation; D009994:Osmolar Concentration; D010375:Pedigree; D011277:Pregnanediones / Q000097:blood*; D012016:Reference Values
D011277:Pregnanediones; D043582:5-alpha-Dihydroprogesterone; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase