Article
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 - 1 Nov 1995
Milewich L, Mendonca B B, Arnhold I, Wallace A M, Donaldson M D, Wilson J D, Russell D W
Abstract excerpt
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 abnormal...
Topics
- 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
- 5-alpha-Dihydroprogesterone
- Adult
- Female
- Humans
- Luteal Phase
- Male
- Mutation
- Osmolar Concentration
- Pedigree
- Pregnanediones
- Reference Values