Rare phenotypic spectrum of 17β-hydroxysteroid dehydrogenase 3 deficiency: case series from infancy to adolescence
17β-HSD3 deficiency remains a challenging 46 XY DSD due to its clinical heterogeneity and diverse molecular spectrum. This report adds to current molecular knowledge by reporting two novel variants in the <i>HSD17B3</i> gene.
Authors
- R Kalavathy
- Subbiah Sridhar
- Sreenivasan Palaniappan
- Aravind Kumar Muthu
- Kuppusamy Nandini
- Aravindan Chandrasekaran
Institutions
- Government Rajaji Hospital (IN)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2026-01-25
- DOI
- https://doi.org/10.1515/jpem-2025-0549
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00