Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals
A continuum of disease phenotypes exists with biochemical overlap that increases with age. Improving genotype accuracy to include chimera subtyping to identify attenuated chimeras and CAH-X and consideration of P30L as a unique group are important to guide genetic counseling and provide anticipatory guidance in disease management.
Authors
- Deepika Burkardt (ORCID: https://orcid.org/0000-0002-1743-7503)
- Amy Moon (ORCID: https://orcid.org/0000-0001-5795-3206)
- Deborah P. Merke (ORCID: https://orcid.org/0000-0002-3746-0460)
- Qizong Lao (ORCID: https://orcid.org/0000-0003-1816-134X)
- Alan H. Schulman (ORCID: https://orcid.org/0000-0002-4126-6177)
- David Bick (ORCID: https://orcid.org/0000-0002-8750-306X)
- Sarah Kollender (ORCID: https://orcid.org/0009-0001-6114-6885)
- Shruti N. Kulkarni (ORCID: https://orcid.org/0009-0002-0495-0532)
Institutions
- Children's National (US)
- George Washington University (US)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (US)
- National Institutes of Health Clinical Center (US)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-10-01
- DOI
- https://doi.org/10.1210/clinem/dgaf546
- Citations
- 2
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- Neurocrine Biosciences
- National Institutes of Health