This Article Full Text (PDF) Submit a related Letter to the Editor Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by MIGEON, C. J. Articles by BIAS, W. B. Search for Related Content PubMed PubMed Citation Articles by MIGEON, C. J. Articles by BIAS, W. B.

The Attenuated Form of Congenital Adrenal Hyperplasia as an Allelic Form of 21-Hydroxylase Deficiency^*

CLAUDE J. MIGEON, ZEV ROSENWAKS, PETER A. LEE, MARIA D. URBAN and WILMA B. BIAS

Departments of Pediatrics and Obstetrics and Gynecology, Johns Hopkins University School of Medicine Baltimore, Maryland 21205

Address all correspondence and requests for reprints to: Claude J. Migeon, M.D., CMSC 3-110, The Johns Hopkins Hospital, Baltimore, Maryland 21205.

A 17-yr-old female presented with marked menstrual irregularities since menarche at age 13 yr and severe hirsutism, particularly facial, since puberty. Her disorder was shown to be related to a mild 21-hydroxylase deficiency and she was diagnosed to have an attenuated (so-called acquired) form of congenital virilizing adrenal hyperplasia.

HLA typing and ACTH testing of her parents and siblings provided evidence of a linkage between HLA and 21-hydroxylase deficiency loci. Similar observations have been made previously for the salt-losing and simple virilizing forms of congenital virilizing adrenal hyperplasia, suggesting that these two as well as the attenuated forms are allelic in regard to the 21-hydroxylase deficiency gene.

^* This work was supported in part by USPHS Research Grants AM-00180-29 and RR-00052-19.

This work was supported in part by USPHS Research Grants AM-00180-29 and RR-00052-19.

This work was supported in part by USPHS Research Grants AM-00180-29 and RR-00052-19.

This work was supported in part by USPHS Research Grants AM-00180-29 and RR-00052-19.

Received February 11, 1980.

This article has been cited by other articles:

				M. G. Forest Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency Hum. Reprod. Update, November 1, 2004; 10(6): 469 - 485. [Abstract] [Full Text] [PDF]

				M. I. Evans, G. P. Chrousos, D. W. Mann, J. W. Larsen Jr, I. Green, J. McCluskey, D. L. Loriaux, J. C. Fletcher, G. Koons, J. Overpeck, et al. Pharmacologic Suppression of the Fetal Adrenal Gland In Utero: Attempted Prevention of Abnormal External Genital Masculinization in Suspected Congenital Adrenal Hyperplasia JAMA, February 15, 1985; 253(7): 1015 - 1020. [Abstract] [PDF]

				G. P. CHROUSOS, D. L. LORIAUX, D. L. MANN, and G. B. CUTLER Jr. Late-Onset 21-Hydroxylase Deficiency Mimicking Idiopathic Hirsutism or Polycystic Ovarian Disease: An Allelic Variant of Congenital Virilizing Adrenal Hyperplasia with a Milder Enzymatic Defect Ann Intern Med, February 1, 1982; 96(2): 143 - 148. [Abstract] [PDF]