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Article

Study of a kindred with classic congenital adrenal hyperplasia: diagnostic challenge due to phenotypic variance.

The Journal of clinical endocrinology and metabolism - 1 Jun 1998

Chin D, Speiser P W, Imperato-McGinley J, Dixit N, Uli N, David R, Oberfield S E

Abstract excerpt

We sought to determine the concordance of the phenotype and genotype in a kindred with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. The variation in phenotypic expression within this family underscores the difficulty of establishing the diagnosis in the absence of newborn screening, even with a heightened index of suspicion. Steroidogenic profiles were obtained for the three affected...

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Identifiers

PMID: 9626123
DOI: 10.1210/jcem.83.6.4887

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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