Bu çalışmada, Ege Üniversitesi Çocuk Genetik Hastalıkları ve Pediatrik Endokrinoloji Bilim Dalı’nda takipli 53 TS olgusu klinik, laboratuvar ve görüntüleme bulguları ile detaylı olarak incelendi. En sık görülen bulgu boy kısalığı oldu. Ayrık yerleşimli meme başı bulgusu ikinci sıklıkta görüldü. Kardiyak, renal anomali, otoimmünite, diyabet, obezite, hiperlipidemi bulguları literatür ile uyumlu bulundu. En sık görülen kardiyak anomali, biküspit aortik kapak anomalisi; en sık görülen renal anomali, at nalı böbrek anomalisi oldu. Olguların başvuru yaşı, GH tedavi süresi ve ile Delta SDS (Son boy-İlk boy) arasında anlamlı bir istatistiksel ilişki saptanmadı. Olguların karyotip sonuçları ile klinik özellikler arasındaki ilişki değerlendirildiğinde, istatistiksel olarak anlamlı sonuç FSH değerlerinde görüldü. 45,X ve izokromozom Xq karyotipine sahip olguların FSH değerleri, 45,X/46,XX mozaik karyotip grubuna göre belirgin yüksek bulundu. Bu durum 45,X ve izokromozom X karyotipine sahip olguların daha sıklıkla hipogonadotropik hipogonadizm tablosuna sahip olduğunu göstermektedir. Mikroarray çalışması ile 36 olgunun 8’inde kopya sayısı değişikliği saptandı. Kazanç ve kayıp bölgelerinin içerdiği çok sayıda gen saptandı. Bu genler içerisinde fonksiyonu tanımlanmış olanlardan bazıları; PROS1, ARL13B, TGIF2LY, OTOA, PCDH11Y’ dir. Üç olguda Y kromozom materyali saptanmıştır. Bu kazanç bölgesinde üç olguda da PCDH11Y geni saptandı. Bu olguların tümör gelişimi açısından yakın izlemi yapılmalıdır. CNV saptanan olguların klinik bulguları detaylı incelendiğinde, TS karakteristik bulguları arasında olmayan, mental retardasyon, DKMP, Takayasu Arteriti gibi atipik bulgular saptandı. Kopya sayısı değişikliği saptanmayan olgularda görülmeyen bu atipik bulgular, karyotipten bağımsız olarak CNV’nin TS olgularının kliniği üzerine büyük ölçüde etkili olduğunu düşündürmektedir. Bu nedenle TS olgularına, özellikle Y kromozom varlığı ve atipik bulguların açıklanabilmesi için, maliyet dikkate alınmaz ise önce mikroarray çalışması yapılması önerilir, gerekir ise karyotip yapılması düşünülebilir. Ancak maliyet her zaman dikkate alınması gereken önemli bir kriter olması nedeni ile önce karyotip, özellikli olgularda mikroarray çalışması yapılabilir.
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