ArticleFrontiers in endocrinology2025
Diagnostic and therapeutic pitfalls in the management of pediatric patients with 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) deficiency - a single center experience.
Article in Frontiers in endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Congenital adrenal hyperplasia (CAH) due to 3β-hydroxysteroid dehydrogenase type 2 deficiency (3β-HSD2D) is an exceptionally rare disorder affecting adrenal steroidogenesis, leading to variable clinical presentations. This study aims to highlight the phenotypic variability and management challenges associated with 3β-HSD2D through the analysis of three pediatric cases. Methods: We retrospectively reviewed three patients diagnosed with 3β-HSD2D at the Pediatric Endocrinology Department of the University Children's Hospital in Krakow. Clinical features, laboratory findings, genetic analyses, and management strategies were evaluated. A detailed literature overview has been performed to find previously described 3β-HSD2D patients and correlate clinical presentation with distinct variants in the Results: Case 1: A female neonate presented with adrenal insufficiency, electrolyte imbalances, hyperpigmentation, and congenital heart defects. Genetic testing revealed a homozygous missense pathogenic variant c.760T>G (p.Tyr254Asp) in the Conclusions: This work underscores the clinical heterogeneity of 3β-HSD2D and the necessity for comprehensive genetic evaluation. Variants in the
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