What question did this study set out to answer?

Characterize the clinical and genetic profile of Asian Indian patients with 17β-hydroxysteroid dehydrogenase 3 (17βHSD3) deficiency and identify factors that influence gender role decisions in 46,XY disorders of sex development.

February 16, 2022Clinical Endocrinology

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

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Authors

BKBrijesh KrishnappaNethradhama Superspeciality Eye Hospital SASneha AryaKing Edward Memorial Hospital and Seth G.S. Medical College ALAnurag LilaKing Edward Memorial Hospital and Seth G.S. Medical College

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Implication

Cohort study and systematic review reveals geographic differences in gender role changes among patients with 17βHSD3 deficiency, highlighting the need to evaluate underlying mechanisms.

Key Points

Characterize the clinical and genetic profile of Asian Indian patients with 17β-hydroxysteroid dehydrogenase 3 (17βHSD3) deficiency and identify factors that influence gender role decisions in 46,XY disorders of sex development.
Evaluated clinical and genetic profiles of 10 patients (9 probands, 1 affected family member) from a single-center 46,XY DSD cohort (N = 150) in Western India.
Conducted a systematic review of 152 globally reported probands with genetically confirmed 17βHSD3 deficiency to analyze variables associated with sex of rearing and gender role changes.
17βHSD3 deficiency represented 6% of non-dysgenetic 46,XY DSD cases in the cohort, presenting equally with prepubertal atypical genitalia (n = 5) and pubertal primary amenorrhea (n = 5), with 10 pathogenic variants identified (6 novel).
Across the systematic review cohort (N = 152), initial male sex assignment occurred in 10.5% of cases and was significantly associated with atypical genitalia, higher testosterone/androstenedione ratios, and Asian geographic origin.
Among individuals initially reared female, 10.3% shifted to a male gender role; this transition was associated with Asian origin, was absent in European-origin cohorts, and was unrelated to pubertal androgen levels or variant severity.

Cite This Study

Krishnappa et al. (2022) studied this question.

synapsesocial.com/papers/6a8a3c33abe412682d93192e https://doi.org/10.1111/cen.14694

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Implication

Cohort study and systematic review reveals geographic differences in gender role changes among patients with 17βHSD3 deficiency, highlighting the need to evaluate underlying mechanisms.

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

Discussion

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Implication

Key Points

Cite This Study

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

Discussion

Member takes

Implication

Key Points

Cite This Study

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