ArticleSexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation2023
Two Novel Heterozygous Variants in RecA2 Domain of DHX37 Cause 46,XY Gonadal Dysgenesis and Testicular Regression Syndrome.
Article in Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Novel and KnownGenes · 2026Article
- Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis.BMC medical genomics · 2026Article
- Multi-omics analysis the effects of Dhx37 deficiency on testis development and nucleolar homeostasis.Cell death discovery · 2026Article
- Coexistence ofJournal of pediatric endocrinology & metabolism : JPEM · 2025Article
- Profile ofFrontiers in endocrinology · 2025Review
- Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development.Molecular genetics & genomic medicine · 2024Article
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8 authors.
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Abstract
introductionThe pathogenic variants in DEAH-box RNA helicase DHX37 are one of the major causes of 46,XY gonadal dysgenesis and testicular regression syndrome (TRS). To date, only 13 different missense variants have been reported. We report two additional cases with different clinical presentations carrying two novel variants in the DHX37 gene. CASE PRESENTATION AND
resultsCase 1 (4.4-year-old boy) presented with significant micropenis and cryptorchidism and was diagnosed as TRS. Case 2 (13.5-year-old girl) had a 46,XY karyotype with female external genitalia and was diagnosed as GD. Two novel DHX37 variants affecting the RecA2 domain, p.G478R and p.L627F, were identified in these cases. Both variants identified in the probands were also present in their unaffected mother.
conclusionOur findings broaden the variant spectrum of DHX37 in 46,XY differences of sex development (DSD) individuals.
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