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 |
本文献已被 ScienceDirect 等数据库收录! |
|