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, Wilma B. Bias

Research output: Contribution to journalArticle

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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 - Sep 1980

All Science Journal Classification (ASJC) codes

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

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