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- Title
Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility.
- Authors
Mehta, Poonam; Singh, Priyamvada; Gupta, Nalini J.; Sankhwar, Satya Narayan; Chakravarty, Baidyanath; Thangaraj, Kumarasamy; Rajender, Singh
- Abstract
Purpose: To identify the contribution of mutations in the Desert Hedgehog (DHH) gene to the disorders of sexual differentiation (DSD) and male infertility. Methods: The 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. Results: We 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. Conclusion: Mutations in the DHH gene impact reproduction with mild mutations affecting fertility, and severe or multiple mutations resulting in gonadal dysgenesis.
- Subjects
SEX differentiation disorders; MALE infertility; GONADAL dysgenesis; CRYPTORCHISM; OLIGOSPERMIA; FATHER-child relationship; INFERTILITY
- Publication
Journal of Assisted Reproduction & Genetics, 2021, Vol 38, Issue 7, p1871
- ISSN
1058-0468
- Publication type
Article
- DOI
10.1007/s10815-021-02140-1