Turkiye Klinikleri Journal of Medical Sciences

.: ORIGINAL RESEARCH
Klinefelter Sendromlu Hastaların Klinik ve Laboratuvar Bulgularının Değerlendirilmesi: Tek Merkez Deneyimi
Evaluation of Clinical and Laboratory Findings of Patients with Klinefelter Syndrome: Single Center Experience
Aysel KALAYCI YİĞİNa, Mehmet SEVENa
aİstanbul Üniversitesi-Cerrahpaşa Cerrahpaşa Tıp Fakültesi, Tıbbi Genetik ABD, İstanbul, TÜRKİYE
Turkiye Klinikleri J Med Sci. 2021;41(1):63-9
doi: 10.5336/medsci.2020-79276
Article Language: TR
Full Text
ÖZET
 Amaç: Bu çalışmanın amacı, Cerrahpaşa Tıp Fakültesi Genetik Hastalıklar Tanı Merkezine (GETAM) infertilite ön tanısıyla refere edilen ve Klinefelter sendromu (KS) tanısı konulan hastaların klinik, sitogenetik ve moleküler genetik bulgularını değerlendirmektir. Gereç ve Yöntemler: 2016 ve 2020 yılları arasında infertilite ön tanısıyla GETAM'a başvuran 412 olgudan 50'sine KS tanısı konuldu. Tüm olgulara, karyotip ve Y kromozomunda lokalize AZF ve SRY bölgelerinin mikrodelesyon analizi yapıldı. Karyotip analizi, konvansiyonel Giemsa-Tripsin G-bantlama tekniği kullanılarak yapıldı. Y kromozom mikrodelesyonları, DNA fragman analizi yöntemiyle incelendi. Bulgular: Olgularımız, genellikle önikoid görünümde, uzun bacaklı ve uzun boylu (1,79±0,05) olup, testislerinin volümü küçüktü (sağ 1,97±0,51, sol 2,12±0,66). Hastaların %44'ünde sakal gelişimi, %28'inde jinekomasti mevcuttu. Karyotip analizinde 50 KS'li olgunun 46'sında 47,XXY (%92), 2'sinde mozaik 47,XXY/46,XY (%4), 2'sinde ise oldukça nadir görülen mozaik 47,XXY/46,XX ve 47,XXY/46,XX/46,XY (%4) karyotipi gözlendi. Y kromozomu mikrodelesyon analizinde ise bir olguda AZFc (sy1291) (%2) delesyonu saptandı. Sonuç: GETAM'a infertilite şikâyetiyle başvuran 412 bireyden 50'sine KS tanısı konuldu (%12,1). Olguların %28'inde jinekomasti mevcuttu. Karyotip analizinde %92 regüler, %8 mozaik tip, mozaik olguların 2'si nadir görülen karyotipe sahipti. Moleküler analizlerde ise 1 hastada (%2) AZFc mikrodelesyonu tespit edildi. Olgularımızın klinik ve laboratuvar bulguları, literatür verileriyle uyumluydu. Ancak 2 olguda görülen farklı mozaik yapılar, literatürde bugüne kadar sadece birkaç olguda bildirilmiş olup, bu nadir bulguların literatüre katkı sağlayacağı düşünülmektedir.

Anahtar Kelimeler: Klinefelter sendromu; karyotipleme; Y kromozomu mikrodelesyonu; mozaisizm; sayısal kromozomal anomali
ABSTRACT
 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 phenotypicially 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 microdeletion 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.

Keywords: Klinefelter syndrome; karyotyping; Y chromosome microdeletion; mosaicism; numerical chromosomal abnormality
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