A 47,X,i(Xq),Y KARYOTYPE DETECTED KLINEFELTER SYNDROME PATIENT

Öz

Klinefelter syndrome, the first described chromosomal abnormality, is characterized with hypergonadotrophic hypogonadism and eunochoid body habitus. Its prevelance is one in 500-1000 live birth. Patients usually diagnosed while they are evaluated for infertility. The general abnormalities of Klinefelter syndrome are eunochoid body habitus, gynecomastia, decreased facial and pubic hair, personality and behaviourial problems. While 47,XXY chromosome structure is detected in 80% of the patients, it is thought that 20% of the patients have another numerical chromosomal abnormality. There is no clear data about the prevalence of structural chromosomal abnormalities, particularly isochromosome Xq, but its prevalence among Klinefelter syndrome patients is estimated to be 3-9%. In this case report we present clinical and laboratory findings of a Klinefelter syndrome patient who came to our clinics because of infertility and found to have 47,X,i(Xq),Y karyotype in conventional cytogenetic analyse.

Anahtar Kelimeler

• Klinefelter Syndrome
• Isochromosome X(q)
• Infertility

47,X,i(Xq),Y KARYOTİPİ SAPTANAN BİR KLİNEFELTER SENDROMU OLGUSU

Öz

Klinefelter sendromu ilk tanımlanan kromozom anomalisi olup temel olarak hipergonadotropik hipogonadizm ve önükoid vücut yapısı ile karakterizedir. Sıklığı 500-1000 canlı doğumda birdir. Olgular sıklıkla infertilite nedeniyle yapılan incelemeler sırasında tanı alırlar. Klinefelter sendromunun genel özelliklerini uzun boy, önükoid vücut yapısı, jinekomasti, azalmış testis volümü, yetersiz yüz ve pubik kıllanma, kişilik ve davranış problemleri olarak sıralayabiliriz. 47,XXY kromozom kuruluşu olguların % 80’inde mevcut iken 47,XXY dışı sayısal kromozom anomalilerinin tüm olgular içindeki oranının % 20 olduğu düşünülmektedir. İzokromozom Xq gibi yapısal kromozom anomalilerinin sıklığı konusunda net bir bilgi olmamakla birlikte sıklığının tüm Klinefelter sendromlu olguların % 0,3-0,9`unu oluşturduğu tahmin edilmektedir. Bu olgu sunumunda infertilite nedeniyle kliniğimize başvuran ve konvansiyonel sitogenetik analiz sonucunda karyotipi 47,X,i(Xq),Y olarak saptanan Klinefelter sendromlu bir hastanın klinik ve laboratuar bulguları tarif edilmektedir.

Anahtar Kelimeler

• Klinefelter Sendromu
• İzokromozom X(q)
• İnfertilite

Kaynakça

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