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Article

17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role-focused systematic review.

Clinical endocrinology - 1 Jul 2022

Krishnappa Brijesh, Arya Sneha, Lila Anurag R, Sarathi Vijaya, Memon Saba S, Barnabas Rohit, Kumbhar Bajarang V, Bhandare Vishwambhar V, Patil Virendra, Shah Nalini S, Kunwar Ambarish, Bandgar Tushar

Abstract excerpt

OBJECTIVES: To describe Asian Indian patients with 17β hydroxysteroid dehydrogenase 3 (17βHSD3) deficiency and to perform a systematic review to determine the factors influencing gender role in 46,XY disorder of sex development (DSD) due to 17βHSD3 deficiency. PATIENTS AND DESIGN: We present the phenotypic and genotypic data of 10 patients (9 probands and 1 affected family member) with 17βHSD3 deficiency from our...

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PMID: 35170787
DOI: 10.1111/cen.14694

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