Akademik Veri Yönetim Sistemi
Turkiye Klinikleri Journal of Medical Sciences, cilt.41, sa.1, ss.63-69, 2021 (Scopus, TRDizin)
Objective: The aim of this study is to evaluate the clinical, cytogenetic and molecular genetic findings of patients who were referred to the Genetic Diseases Diagnosis Center in Cerrahpaşa Medical Faculty with a pre-diagnosis of infertility and diagnosed with Klinefelter syndrome (KS). Material and Methods: 50 of 412 cases applied to genetic diseases diagnosis center with pre-diagnosed of infertility were diagnosed with KS between 2016 and 2020. Karyotype and microdeletion analysis of AZF and SRY regions localized on the Y chromosome were performed in all cases. Conventional G banding technique by using Trypsin-Giemsa was applied for karyotype analysis. Y chromosome microdeletions were evaluated with DNA fragment analyses. Results: Our cases were phenotypi-cially onychoid, leggy and tall (1.79±0.05), and the volume of their testicles was small (right 1.97±0.51, left 2.12±0.66). 44% of the patients had beard growth and 28% had gynecomastia. In karyotype analysis within 50 KS cases, we found 46 cases with 47,XXY (92%), 2 cases with mosaic 47,XXY/46,XY (4%) and also 2 cases rarely seen mosaic 47,XXY/46,XX and 47,XXY/46,XX/46,XY (4%) karyotype. AZFc (sy1291) (2%) deletion was detected at one case in Y chromosome mi-crodeletion analysis. Conclusion: 50 of the 412 individuals who applied to genetic diseases diagnosis center with infertility complaints were diagnosed with KS (12.1%). Gynecomastia was present in 28% of the cases. In karyotype analysis, 92% regular, 8% mosaic type, 2 of mosaic cases had a rare karyotype. In molecular analysis, AZFc microdeletion was detected in one patient (2%). The clinical and laboratory findings in our cases with KS were compatible with the literature when we evaluated in general. However, our 2 cases with different mosaic structure has been reported only at eight cases in the literature so far, for that reason we thought that these rare findings are going to make a contribution to the literature.