Phenotypic evolution of classic 21-hydroxylase deficiency

William H. Hoffman, Myung Y. Shin, Patricia A. Donohoue, Sandra W. Helman, Stephanie L. Brown, George Rosculet, Virendra B. Mahesh

Research output: Contribution to journalArticlepeer-review


We describe a female patient who was diagnosed and treated at birth for a classic form of salt-losing congenital adrenal hyperplasia. At 17 years of age, against medical advice, she discontinued both mineralocorticoid and glucocorticoid replacement with no resulting clinical symptoms other than the occurrence of amenorrhoea. Steroid metabolites revealed significant abnormalities of the renin-angiotensin-alosterone axis, as well as of pituitary-adrenal function. Analysis of our patient's DNA showed only one deleterious CYP21 mutation, an intron 2 base pair change activating a cryptic splice site. We speculate that expression of this patient's CYP21 genes may be altered by the effects of ageing or by changes in the steroid milieu.

Original languageEnglish (US)
Pages (from-to)103-109
Number of pages7
JournalClinical Endocrinology
Issue number1
StatePublished - 1996

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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