An attenuated form of congenital virilizing adrenal hyperplasia

Zev Rosenwaks, Peter A. Lee, Georgeanna S. Jones, Claude J. Migeon, Anne C. Wentz

Research output: Contribution to journalArticle

Abstract

The families of two patients with hirsutism and oligomenorrhea were studied with iv ACTH (Cortrosyn) stimulation. The parents responded with a combined incremental rise of progesterone and 17-hydroxyprogesterone greater than 6.5 ng/dl-min, a response seen in the heterozygote parents of patients with congenital virilizing adrenal hyperplasia (CVAH). One sibling in one family responded as do heterozygous subjects, while two other siblings responded normally. The abnormal response of the two pairs of parents and the sibling along with the pattern of steroid secretion observed in the propositi suggest that the so-called adult-onset CVAH is a mild form of the homozygous state of CVAH.

Original languageEnglish (US)
Pages (from-to)335-339
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume49
Issue number3
DOIs
StatePublished - Jan 1 1979

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

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    Rosenwaks, Z., Lee, P. A., Jones, G. S., Migeon, C. J., & Wentz, A. C. (1979). An attenuated form of congenital virilizing adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism, 49(3), 335-339. https://doi.org/10.1210/jcem-49-3-335