The attenuated form of congenital adrenal hyperplasia as an allelic form of 21-hydroxylase deficiency

Claude J. Migeon, Zev Rosenwaks, Peter Lee, Maria D. Urban, Wilma B. Bias

Research output: Contribution to journalArticle

65 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)647-649
Number of pages3
JournalJournal of Clinical Endocrinology and Metabolism
Volume51
Issue number3
DOIs
StatePublished - Jan 1 1980

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Steroid 21-Hydroxylase
Congenital Adrenal Hyperplasia
Histocompatibility Testing
Hirsutism
Menarche
Puberty
Adrenocorticotropic Hormone
Salts
Genes
Testing
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

All Science Journal Classification (ASJC) codes

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

Cite this

Migeon, Claude J. ; Rosenwaks, Zev ; Lee, Peter ; Urban, Maria D. ; Bias, Wilma B. / The attenuated form of congenital adrenal hyperplasia as an allelic form of 21-hydroxylase deficiency. In: Journal of Clinical Endocrinology and Metabolism. 1980 ; Vol. 51, No. 3. pp. 647-649.
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The attenuated form of congenital adrenal hyperplasia as an allelic form of 21-hydroxylase deficiency. / Migeon, Claude J.; Rosenwaks, Zev; Lee, Peter; Urban, Maria D.; Bias, Wilma B.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 51, No. 3, 01.01.1980, p. 647-649.

Research output: Contribution to journalArticle

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