A novel HSD3B2 variant of uncertain significance (c.64_66del, p.Leu22del) in a female infant with 3β-hydroxysteroid dehydrogenase deficiency presenting with completely normal external genitalia: a case report

Journal of Medical Case Reports · Published 2026-09-06 · Journal article · DOI 10.1186/s13256-026-06578-8

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Authors (3)

Yuling Zhang, Baoan Lin, Liuhua Liao

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Publication details

Year

2026

Citation

Zhang, Y., Lin, B., Liao, L. (2026). A novel HSD3B2 variant of uncertain significance (c.64_66del, p.Leu22del) in a female infant with 3β-hydroxysteroid dehydrogenase deficiency presenting with completely normal external genitalia: a case report. Journal of Medical Case Reports. https://doi.org/10.1186/s13256-026-06578-8

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