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Journal of Clinical Endocrinology & Metabolism, Vol 49, 335-339, Copyright © 1979 by Endocrine Society

ARTICLES

An attenuated form of congenital virilizing adrenal hyperplasia

Z Rosenwaks, PA Lee, GS Jones, CJ Migeon and AC Wentz

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.


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