ArticleJournal of assisted reproduction and genetics2021
Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility.
Article in Journal of assisted reproduction and genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- Desert Hedgehog mediates stem Leydig cell differentiation through Ptch2/Gli1/Sf1 signaling axis.eLife · 2026Article
- Genetic, Epigenetic, and Non-Genetic Factors in Testicular Dysgenesis Syndrome: A Narrative Review.Genes · 2025Review
- Quantitative Postnatal Maturation of the Feline Testis from 6 to 36 Months: A Stereological and DHH Immunomorphological Analysis.Animals : an open access journal from MDPI · 2025Article
- Hedgehog Signaling Functions in Spermatogenesis and Keeping Hemolymph-Testis Barrier Stability inInternational journal of molecular sciences · 2025Article
- Human efferent ductules and epididymis display unique cell lineages with motile and primary cilia.Andrology · 2025Article
- Identified Candidate Genes of Semen Trait in Three Pig Breeds Through Weighted GWAS and Multi-Tissue Transcriptome Analysis.Animals : an open access journal from MDPI · 2025Article
- Mechanisms and therapeutic potential of the hedgehog signaling pathway in cancer.Cell death discovery · 2025Review
- Novel non-synonymous and synonymous gene variants of SRD5A2 in patients with 46,XY-DSD and DSD-free subjects.PloS one · 2025Article
- Effect of feeding corn silage on semen quality and spermatogenesis of bulls.Veterinary research communications · 2024Article
- New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Observational
- Bibliometric analysis of scientific publications on cryptorchidism: Research hotspots and trends between 2000 and 2022.Heliyon · 2023Article
- Hedgehog signaling regulates Wolffian duct development through the primary cilium†.Biology of reproduction · 2023Article
- Review
- Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child.Frontiers in genetics · 2022Article
- [Clinical Findings in Two patients with DSD 46XY caused by new variant of theProblemy endokrinologii · 2021Review
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
purposeTo identify the contribution of mutations in the Desert Hedgehog (DHH) gene to the disorders of sexual differentiation (DSD) and male infertility.
methodsThe study included a total 430 subjects, including 47 gonadal dysgenesis cases, 6 patients with undescended testis and infertility characterized by azoospermia, 125 infertile male patients characterized by oligoasthenozoospermia, 24 patients with oligoasthenoteratozoospermia, and 200 ethnically matched normozoospermic fertile men who had fathered a child in the last two years. Sequencing of the complete coding region of the DHH gene was undertaken to find its contribution to the DSD and male infertility.
resultsWe observed four novel mutations in the DHH gene in the cases with different reproductive anomalies. A synonymous substitution, c. 543C>T (p.His181His) was observed in 6.6% oligoasthenozoospermic infertile males and 1.5% normozoospermic fertile control samples (RR = 4.4077, 95%CI 1.19-16.29). Another synonymous substitution, c.990G>A (p.Ala330Ala) was observed in an infertile patient with unilateral undescended testis (case #12). Insertion of G at c.1156insG (p.Arg385fs) was observed in a case with bilateral undescended testis and azoospermia (case #23). In gonadal dysgenesis category, two mutations, insertion of G at c.1156insG (p.Arg385fs) and c.997A>G (p.Thr333Ala) substitution were observed in one case (case #34). These mutations were completely absent in control samples.
conclusionMutations in the DHH gene impact reproduction with mild mutations affecting fertility, and severe or multiple mutations resulting in gonadal dysgenesis.
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