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

J Clin Endocrinol Metab. 1980 Sep;51(3):647-9. doi: 10.1210/jcem-51-3-647.

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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adrenal Hyperplasia, Congenital* / genetics*
  • Adrenocorticotropic Hormone
  • Alleles*
  • Female
  • HLA Antigens / genetics
  • Heterozygote
  • Humans
  • Steroid Hydroxylases / deficiency*

Substances

  • HLA Antigens
  • Adrenocorticotropic Hormone
  • Steroid Hydroxylases