• PMID: 30478911
• Gene Name: H19
• Condition: Sertoli cell-only syndrome, Male infertility
• Association: Associated
• Population size: 39
• Population details: 39 Sertoli cell-only syndrome infertile patients
• Sex: Male
• Infertility type: Male infertility
• Associated genes: HOXD9, SYCE1, COL1A1, H19 and KCNQ1
• Other associated phenotypes: Sertoli cell-only syndrome, Male infertility

Male infertility in Sertoli cell-only syndrome: An investigation of autosomal gene defects

Koc G, Ozdemir AA, Girgin G, Akbal C, Kirac D, Avcilar T, Guney AI.

OBJECTIVES: To detect autosomal genetic defects and to determine candidate genes in Sertoli cell-only syndrome infertile men. METHODS: Single-nucleotide polymorphism + comparative genomic hybridization microarray technology was carried out on 39 Sertoli cell-only syndrome infertile patients in the present study. Array comparative genomic hybridization compares the patient's genome against a reference genome, and identifies uncover deletions, amplifications and loss of heterozygosity. RESULTS: A link between defective spermatogenesis genes and infertility was examined, and amplifications and deletions in several genes were detected, including homeobox gene; synaptonemal complex element protein 1; collagen, type I, alpha 1; imprinted maternally expressed transcript; and potassium voltage-gated channel subfamily Q member 1. CONCLUSIONS: The present data suggest that several genes can play an important role in spermatogenesis and progression of Sertoli cell-only syndrome. CI - © 2018 The Japanese Urological Association. FAU - Koc, Gulsah AU - Koc G AD - Department of Medical Biology and Genetics, Faculty of Medicine, Istanbul Aydin University, Istanbul, Turkey. FAU - Ozdemir, Abdullah A AU - Ozdemir AA AD - Department of Urology, SBU Zeynep Kamil Women and Children's Diseases Education and Research Hospital, Istanbul, Turkey. FAU - Girgin, Gozde AU - Girgin G AD - Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey. FAU - Akbal, Cem AU - Akbal C AD - Department of Urology, Faculty of Medicine, Acibadem University, Istanbul, Turkey. FAU - Kirac, Deniz AU - Kirac D AD - Department of Medical Biology, Faculty of Medicine, Yeditepe University, Istanbul, Turkey. FAU - Avcilar, Tuba AU - Avcilar T AD - Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey.