Ayça ALTINCIK, Gönül ÇATLI, Derya ERÇAL, Ece BÖBER, Elçin BORA, Korcan DEMİR, Ayhan ABACI

Nadir Görülen Bir Turner Sendromu Karyotipi: 45,X/47,XXX

Özet Turner sendromu (TS) boy kısalığı, gonadal disgenezi, renal ve kardiyak anomaliler ile karakterize ve sıklıkla 45,XO karyotipinin bir sonucu olarak gelişen kromozomal bir bozukluktur. TSnede spontan menarş olasılığı %10 iken, fertilite olasılıkları ise çok daha düşüktür. 45,X/47,XXX mozaisizmi TSli olguların %1-%4ünü oluşturmaktadır. Bu karyotipe sahip bireylerde spontan menarş ve fertilite olasılığı daha yüksek olup, boy kısalığı ve renal anomali sıklığı ise diğer tiplerden daha nadirdir. On üç yaşında kız olgu iki yıldır uzamada yavaşlama ve yaşıtlarından kısa olması nedeniyle polikliniğe başvurdu. Fizik muayenesinde boyu 135 cm (-3,3 SDS), ağırlığı 32 kg (-2,3 SDS), Tanner evrelemesine göre meme gelişimi ve pubik kıllanması evre 3, dirsekte geniş taşıma açısı ve düşük ense saç çizgisi mevcuttu. Diğer sistem muayneleri normaldi. Tetkiklerinde tam kan sayımı, karaciğer ve böbrek fonksiyon testleri, tiroit fonksiyon testleri normaldi. Kemik yaşı 11 yaş ile uyumlu bulundu. FSH 5,99 mIU/mL, LH 2,94 mIU/mL ve E2

A Rare Karyotype of Turner Syndrome: 45.X/47.XXX

Abstract Turner syndrome (TS) is a chromosomal disorder, which mostly results from a 45.XO karyotype and is characterized with short stature, gonadal dysgenesis, renal and cardiac abnormalities. The probability of spontaneous menarche in TS is 10%, while the probability of fertility is too low. The frequency of 45.X/47,XXX mosaicism in TS has been reported as 1%-4%. Cases with this karyotype were reported to have higher rates of spontaneous menarche and fertility with a lower incidence of short stature and renal abnormalities. A thirteen year-old girl was admitted to our clinic with the complaints of decreased height velocity for the last two years and short stature compared to peers. On physical examination, her height was 135 cm (SD score -3.3) and weight was 32 kg (SD score -2.3) with breast development and pubic hair consistent with Tanner stage III. She also had an increased carrying angle of the elbow and low nuchal hairline. Remaining systemic physical examination was normal. Laboratory evaluation revealed normal complete blood count, renal, hepatic, and thyroid function test results. Bone age

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