Case Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development

Case Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development

Differences of sex development (DSD) are a group of congenital conditions involving atypical chromosomal, gonadal, or anatomical sex development. DHX37, a gene involved in ribosome biogenesis, located on chromosome 12, at the 12q24.31 region, has recently emerged as a contributor to 46,XY DSD, parti...

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Bibliographic Details
Main Authors: Abeer Alabduljabbar, Sara Abid, Dania Farooq, Sara Aljazaeri, Yara Khamag, Raghad Alhuthil, Latifah Alfahad, Afaf Alsagheir
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Endocrinology
Subjects:
DHX37
gonadal dysgenesis
testicular regression syndrome
ambiguous genitalia
genetic testing
Saudi Arabia
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1622036/full
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https://www.frontiersin.org/articles/10.3389/fendo.2025.1622036/full

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