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The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.

Endocrine - 1 Sept 2020

Levy-Khademi Floris, Zeligson Sharon, Lavi Eran, Klopstock Tehila, Chertin Boris, Avnon-Ziv Carmit, Abulibdeh Abdulsalam, Renbaum Paul, Rosen Tzvia, Perlberg-Bengio Shira, Zahdeh Fouad, Behar Doron M, Levy-Lahad Ephrat, Zangen David, Segel Reeval

Abstract excerpt

PURPOSE: Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY disorders of sex development. In this study the clinical and molecular characteristics of three patients from consanguineous families are elucidated. METHODS: We identified three patients from two unrelated families with XY DSD and a novel homozygous HSD17B3:c. 673G>A...

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PMID: 32372306
DOI: 10.1007/s12020-020-02327-z

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