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DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis

27 Apr 2023

Abstract excerpt

The group of disorders known as 46,XY gonadal dysgenesis (GD) is characterized by anomalies in testis determination, including complete and partial GD (PGD) and testicular regression syndrome (TRS). Several genes are known to be involved in sex development pathways, however approximately 50% of all cases remain elusive. Recent studies have identified variants in DHX37, a gene encoding a putative RNA helicase...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 37240737
DOI: 10.3390/life13051093

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DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal DysgenesisPMID 37240737Read ↗

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndromeSemantic proximity Read ↗

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Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis.Semantic proximity Read ↗

DEAH-box helicase 37 ( <i>DHX37</i> ) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrumSemantic proximity Read ↗

Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis.Semantic proximity Read ↗

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSDSemantic proximity Read ↗

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