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September 10, 2025Human Genome VariationOpen Access

DHX37 variants in patients with 46,XY disorders or differences of sex development

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Authors

YFYûkô FukuiDSDaisuke SaitoHNHiroko Narumi

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Overview

Whole-exome sequencing reveals DHX37 and SOX9 variants in patients with 46,XY disorders, highlighting genetic diversity.

Key Points

  • Three patients exhibited pathogenic DHX37 variants, indicating a potential genetic cause of 46,XY disorders.
  • Whole-exome sequencing revealed a likely pathogenic SOX9 variant in addition to DHX37 variants.
  • The study emphasizes the genetic diversity associated with DHX37 variants in sex development disorders.
  • This analysis involved 17 Japanese patients, showcasing the phenotypic variety linked to these genetic changes.

Cite This Study

Fukui et al. (2025) studied this question.

synapsesocial.com/papers/68c194029b7b07f3a06187ffhttps://doi.org/10.1038/s41439-025-00322-2
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Identification and functional analysis of a rare variant of gene <scp><i>DHX37</i></scp> in a patient with 46,<scp>XY</scp> disorders of sex development2024 · 3 citations
  2. 2Novel and Known DHX37 Variants in 46,XY DSD: Expanding the Genotypic and Phenotypic Spectrum2026
  3. 3DHX37 Variant Is One of the Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome/Partial Gonadal Dysgenesis without Müllerian Derivatives2024 · 3 citations
  4. 4Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis.2026
  5. 5Child Neurology: Clinical and Imaging Findings in a Child With <i>DHX37</i> Gene Variant2025