Handan HAKYEMEZ TOPTAN, Nilgün KARADAĞ, Abdulhamit TUTEN, Tülin Gökmen YILDIRIM, Gülsen AKAY, Mehmet Burak MUTLU, Güner KARATEKİN

Turner sendromu boyun, seksüel immatürite ve kubitus valgus özelliklerini gösteren yedi kadında tanımlan

Turner sendromu X kromozomunun birinin kaybı veya yapısal anomalisi ile karakterize kromozomal bir bozukluktur. Vakaların önemli bir bölümü abortus ile sonuçlanmaktadır. Klinik bulguları yenidoğan döneminde her zaman görülmeyebilir. Bu nedenle sonraki yaşlarda tanı alabilirler. Turner sendromu el ayak sırtında lenf ödem, düşük ense saç çizgisi, kısa yele boyun gösteren hastalarda düşünülmelidir. Bu sendroma kardiyovasküler, genitoüriner ve endokrin sistem anomalileri sıklıkla eşlik edebilmektedir. Bu olgu sunumunda bilateral renal agenezi, pulmoner hipoplazi ve aort stenozunun eşlik ettiği antenatal tanılı bir Turner sendromu olgusu sunulmuştur

Antenatal Tanılı Turner Sendromunda Bilateral Renal Agenezi ve Aort Stenozu Bilateral Renal Agenesis and Aortic Stenosis In An Antenatally Diagnosed Turner Syndrome

Turner syndrome is a genetic disorder caused by loss or structural disorders of X chromosome. A significant number of cases result with abortion. Clinical symptoms are not always apparent in the newborn period. Therefore it could be diagnosed in later years of life. Turner syndrome should be considered in patients with lymphedema on hands and feets, low hairline, short and webbed neck. Cardiovascular, genitourinary, endocrine system disorders could be accompanied. Here we present an antenatally diagnosed Turner syndrome with bilateral renal agenesis, pulmonary hypoplasia and aortic stenosis

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