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Detection of low-grade mosaicism and its correlation with hormonal profile,testicular volume,and semen quality in a cohort of Egyptian Klinefelter and Klinefelter-like patients
Institution:1. Human Cytogenetics, National Research Center, 12622, Cairo, Egypt;2. Department of Zoology, Faculty of Science, Minia University, 61519, El Minia, Egypt;3. Department of Clinical Genetics, National Research Center, 12622, Cairo, Egypt;1. Departamento de Ciências Naturais, Universidade Federal de São João del Rei. Praça Dom Helvécio, 74 - Dom Bosco, São João del-Rei, MG, 36301-160, Brazil;2. Departamento de Morfologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Av. Pres. Antônio Carlos 6627, Belo Horizonte, MG, 31270-901, Brazil;3. Departamento de Zootecnia, ESALQ/Universidade de São Paulo, Av. Pádua Dias 11, Piracicaba, SP, 13418-900, Brazil;4. Embrapa Recursos Geneticos e Biotecnologia, PqEB, Av. W5 Norte, Brasília, DF, 70770-917, Brazil;1. Shanghai JIAI Genetics & IVF Institute, Obstetrics & Gynecology Hospital of Fudan University, Shanghai 200011, China;2. Shanghai Key Laboratory for Female Reproductive Endocrine-Related Diseases, Institute of Reproductive and Development, Fudan University, Shanghai 200433, China;1. Department of Reproductive Center, First Affiliated Hospital ofGuangxi Medical University, Nanning, Guangxi, 530021, China;2. Department of Obstetrics and Gynecology, the Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou, Guangxi, 545005, China;3. Reproductive Medicine Center, Liuzhou Maternal and Child Healthcare Hospital, Liuzhou, Guangxi, 545005, China;1. Faculty of Medicine, Universiti Teknologi MARA Sungai Buloh Campus, Selangor, Malaysia;2. I-PPerFORM, Universiti Teknologi MARA, Malaysia;1. Department of Animal Reproduction and Veterinary Radiology, College of Veterinary Medicine and Animal Science, São Paulo State University, Botucatu, São Paulo, Brazil;2. Paranaense University, Department of Animal Reproduction, Umuarama, Paraná, Brazil;3. Santo Amaro University, Department of Animal Reproduction, São Paulo, São Paulo, Brazil;4. Laboratory of Animal Reproduction, Embrapa Genetic Resources and Biotechnology, Brasília, Distrito Federal, Brazil;1. Istanbul University, Istanbul Faculty of Medicine, Department of Histology and Embryology, Istanbul 34093, Turkey;2. Istanbul University, Istanbul Faculty of Medicine, Department of Laboratory Animal, Aziz Sancar Institute of Experimental Medicine, Istanbul 34093, Istanbul, Turkey;3. Istanbul University, Istanbul Faculty of Medicine, Department of Neuroscience, Aziz Sancar Institute of Experimental Medicine, Istanbul 34093, Istanbul, Turkey;4. Istanbul University, Istanbul Faculty of Medicine, Department of Medical Pathology, Istanbul 34093, Turkey;5. Istanbul University, Istanbul Faculty of Medicine, Department of Forensic Medicine, Istanbul 34093, Turkey;6. Istanbul University, Istanbul Faculty of Medicine, Department of Physiology, Istanbul 34093, Turkey
Abstract:Klinefelter syndrome (KS) is the most common chromosomal syndrome, causing infertility in men and leading to non-obstructive azoospermia. Previous studies on mosaicism have shown contradictory results on its correlation with both serum hormone levels and the presence of spermatozoa in the ejaculate of KS, KS-like, and non-KS-like infertile patients. So, the present study was designed to detect low-grade mosaicism in the peripheral blood lymphocytes and buccal mucosa cells of 14 KS and 8 KS-like patients by using fluorescence in situ hybridization (FISH) and to investigate its correlation with luteinizing hormone (LH), follicle-stimulating hormone (FSH), and testosterone (T) levels, testicular volume, and semen analysis compared with 10 normal healthy fertile men. Our results indicated that mosaicism was only found in 42.9 % of the KS patients and completely absent in all KS-like patients. Moreover, mosaicism has led to complete azoospermia and non-significant differences in both hormone levels and testicular volume between mosaic and non-mosaic KS patients. All KS patients demonstrated significant differences in both hormone levels and testicular volume compared with normal men. Conversely, they revealed non-significant differences in hormone levels and significant differences in testicular volume compared with KS-like patients. Additionally, the KS-like patients exhibited non-significant variations in both LH and FSH levels and significant variations in T level and testicular volume compared with normal men. Moreover, all KS-like patients had azoospermia, except for one patient who showed oligozoospermia. Therefore, no correlations were found either between mosaicism and serum hormone levels or with testicular volume and semen analysis.
Keywords:Azoospermia  Buccal mucosa cells  FSH  Oligozoospermia  Peripheral blood lymphocytes
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