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Article

Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.

The Journal of clinical endocrinology and metabolism - 17 Mar 2026

Lao Qizong, Schulman Annie, Kulkarni Sarah, Kollender Sarah, Bick Daniella, Moon Amy, Burkardt Deepika, Merke Deborah P

Abstract excerpt

CONTEXT: Genetic testing for 21-hydroxylase deficiency (21OHD) is advantageous when hormonal testing is equivocal, to molecularly confirm diagnosis, and for genetic counseling. OBJECTIVE: To characterize the clinical and biochemical phenotype across the genotypic spectrum of 21OHD in a large cohort using updated genetic methodology. DESIGN: Retrospective study of 457 individuals with 21OHD enrolled in a Natural...

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Identifiers

PMID: 41051294
DOI: 10.1210/clinem/dgaf546
PMCID: PMC13017738

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