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July 23, 2026GenesOpen Access

Novel and Known DHX37 Variants in 46,XY DSD: Expanding the Genotypic and Phenotypic Spectrum

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Authors

XXXiaocha XuXWXiaocheng WuSCShuai Chen

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Overview

Retrospective review identifies six DHX37 variants in 46,XY DSD, suggesting expanded genotype-phenotype relationships.

Key Points

  • To explore clinical characteristics and genotype-phenotype correlations of DHX37 variants in 46,XY DSD.
  • Retrospective review of 108 patients with 46,XY karyotype undergoing DSD evaluation and trio-WES.
  • Detailed analysis of six probands with DHX37 variants confirmed through Sanger sequencing.
  • Assessment of variants using in silico prediction, conservation analysis, and ACMG/AMP guidelines.
  • Six probands showed varied phenotypes from complete gonadal dysgenesis to mild testicular underdevelopment with gynecomastia.
  • Identified six heterozygous DHX37 missense variants, with one established as pathogenic; others classified as uncertain significance.
  • Computational analyses hint at specific variants potentially causing different developmental phenotypes.

Cite This Study

Xu et al. (2026) studied this question.

synapsesocial.com/papers/6a61afaefaa9903c5116a67ahttps://doi.org/10.3390/genes17070829
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Also Consider

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  1. 1Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis.2026
  2. 2DHX37 Variant Is One of the Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome/Partial Gonadal Dysgenesis without Müllerian Derivatives2024 · 3 citations
  3. 3DHX37 variants in patients with 46,XY disorders or differences of sex development2025
  4. 4Identification 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
  5. 5Expanding the Clinical Spectrum of DHX30 ‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review2026