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3β-Hydroxysteroid dehydrogenase type-2 deficiency: Our experience and gonadal function-focused systematic review.

Endocrine - 1 Apr 2026

Daga Aaditya, Phadte Aditya, Karlekar Manjiri, Sarathi Vijaya, Lila Anurag Ranjan, Hegishte Samiksha, Memon Saba Samad, Barnabas Rohit, Shah Nalini, Mahadevan Shriraam, Bandgar Tushar

Abstract excerpt

PURPOSE: In 3β-Hydroxysteroid dehydrogenase type-2 (3β-HSD2) deficiency, the gonadal phenotypic spectrum and its correlation with genotype are unclear. We describe our center’s experience and perform a systematic review. METHODS: Retrospective record review of five 3β-HSD2 deficiency probands from our center, along with per-patient data analysis of reported probands, was conducted to understand the genotype and...

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PMID: 41920275
DOI: 10.1007/s12020-026-04592-w

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