Women with steroid 5α-reductase 2 deficiency have normal concentrations of plasma 5α-dihydroprogesterone during the luteal phase

L. Milewich, B. B. Mendonca, I. Arnhold, A. M. Wallace, M. D C Donaldson, J. D. Wilson, D. W. Russell

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

Steroid 5α-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 he endocrinologically normal confirms the previous deduction that this disorder is not manifest in women. Concentrations of plasma 5α-dihydroprogesterone were normal in these two women during the luteal phase; this finding implies that circulating 5α-dihydroprogesterone in women is derived principally from the steroid 5α-reductase 1 isoenzyme and leaves unresolved the question of whether 5α-dihydroprogesterone plays a physiological role in women.

Original languageEnglish (US)
Pages (from-to)3136-3139
Number of pages4
JournalJournal of Clinical Endocrinology and Metabolism
Volume80
Issue number11
StatePublished - 1995

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20-alpha-Dihydroprogesterone
Luteal Phase
Heterozygote
Oxidoreductases
Steroids
Plasmas
Homozygote
Isoenzymes
Mothers
Siblings
Mutation

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

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Women with steroid 5α-reductase 2 deficiency have normal concentrations of plasma 5α-dihydroprogesterone during the luteal phase. / Milewich, L.; Mendonca, B. B.; Arnhold, I.; Wallace, A. M.; Donaldson, M. D C; Wilson, J. D.; Russell, D. W.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 80, No. 11, 1995, p. 3136-3139.

Research output: Contribution to journalArticle

Milewich, L. ; Mendonca, B. B. ; Arnhold, I. ; Wallace, A. M. ; Donaldson, M. D C ; Wilson, J. D. ; Russell, D. W. / Women with steroid 5α-reductase 2 deficiency have normal concentrations of plasma 5α-dihydroprogesterone during the luteal phase. In: Journal of Clinical Endocrinology and Metabolism. 1995 ; Vol. 80, No. 11. pp. 3136-3139.
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AU - Arnhold, I.

AU - Wallace, A. M.

AU - Donaldson, M. D C

AU - Wilson, J. D.

AU - Russell, D. W.

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