Diagnostic and therapeutic pitfalls in the management of pediatric patients with 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) deficiency - a single center experience
This work underscores the clinical heterogeneity of 3β-HSD2D and the necessity for comprehensive genetic evaluation. Variants in the <i>HSD3B2</i> gene contribute to diverse phenotypes, complicating diagnosis and management. Retrospective evaluation of previously described cases offers us guidelines in the management of patients, who need multidisciplinary care involving endocrinology, genetic, gynecology, and urology specialists.
Authors
- Krystian Jażdżewski (ORCID: https://orcid.org/0000-0001-5327-6332)
- Teofila Książek (ORCID: https://orcid.org/0000-0002-9201-0753)
- Konrad Kaleta (ORCID: https://orcid.org/0000-0001-7808-8071)
- Jerzy Starzyk (ORCID: https://orcid.org/0000-0002-4086-6525)
- Dominika Januś (ORCID: https://orcid.org/0000-0002-3870-368X)
- Z Gawlik
- Małgorzata Wróblewska (ORCID: https://orcid.org/0000-0003-1149-9962)
- Aleksandra Jurek
- Anna Siejka (ORCID: https://orcid.org/0000-0001-7179-7713)
- Ewelina Preizner-Rzucidło
- Maria Szwarkowska
Institutions
- Warsaw University of Technology (PL)
- Jagiellonian University (PL)
- Uniwersytecki Szpital Dziecięcy (PL)
- Children's Memorial Health Institute (PL)
- University of Warsaw (PL)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2025-09-25
- DOI
- https://doi.org/10.3389/fendo.2025.1642051
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00