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Article

Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Jul 2002

Charmandari Evangelia, Eisenhofer Graeme, Mehlinger Sarah L, Carlson Ann, Wesley Robert, Keil Margaret F, Chrousos George P, New Maria I, Merke Deborah P

Abstract excerpt

Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is characterized by decreased synthesis of glucocorticoids and mineralocorticoids, adrenal hyperandrogenism, and impaired development and function of the adrenal medulla. Although genotype can usually predict phenotype, genotype-phenotype discordance has been described. We investigated the association between adrenomedullary function,...

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Source

Identifiers

PMID: 12107196
DOI: 10.1210/jcem.87.7.8664

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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