Phenotypic evolution of classic 21-hydroxylase deficiency. Clin Endocrinol (Oxf) 1996 Jul;45(1):103-9
Date
07/01/1996Pubmed ID
8796146Scopus ID
2-s2.0-0030011162 (requires institutional sign-in at Scopus site) 6 CitationsAbstract
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-aldosterone 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.
Author List
Hoffman WH, Shin MY, Donohoue PA, Helman SW, Brown SL, Rosculet G, Mahesh VBMESH terms used to index this publication - Major topics in bold
AdolescentAdrenal Hyperplasia, Congenital
Base Sequence
Complement C4
Exons
Female
Humans
Introns
Molecular Sequence Data
Mutation
Phenotype
Polymorphism, Single-Stranded Conformational
Sequence Analysis, DNA
Steroid 21-Hydroxylase
Treatment Refusal
