A case of 17-beta-hydroxysteroid dehydrogenase deficiency type 3 in adult endocrinologist practice

A case of 17-beta-hydroxysteroid dehydrogenase deficiency type 3 in adult endocrinologist practice

17β-Hydroxysteroid dehydrogenase 3 deficiency (17HSD3) is a rare autosomal recessive cause of 46, XY disorders of sex development resulting from HSD17B3 gene mutations, in which conversion of androstenedione to testosterone is impared. The clinical signs of 17HSD3 deficiency depend on the residual a...

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Bibliographic Details
Main Authors:	N. V. Molashenko, N. Yu. Kalinchenko, V. A. Ioutsi, O. S. Gurinovich, D. M. Babaeva, A. A. Voznesenskaya, N. M. Platonova, M. Yu. Yukina, A. A. Kolodkina, T. A. Ponomareva
Format:	Article
Language:	English
Published:	Endocrinology Research Centre 2023-05-01
Series:	Ожирение и метаболизм
Subjects:	17β-hydroxysteroid dehydrogenase type 3 deficiency androstenedione disorders of sex development
Online Access:	https://www.omet-endojournals.ru/jour/article/view/12999

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