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

Yıl 2014, Cilt: 12 Sayı: 1, 43 - 47, 01.06.2014

Ayça Altıncık Gönül Çatlı Korcan Demir Ayhan Abacı , Elçin Bora Derya Erçal Ece Böber

Öz

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. TS’nede spontan menarş olasılığı %10 iken, fertilite olasılıkları ise çok daha düşüktür. 45,X/47,XXX mozaisizmi TS’li olguların %1-%4’ünü 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 < 20 pg/mL olarak saptandı. Karyotip analizi 45,X/47,XXX olarak raporlandı. Renal anomalisi olmayan olgunun ekokardiyografisinde minimal mitral yetmezlik dışında patolojik bulgu saptanmadı. Ders başarısı düşük olan olgunun yapılan WISC-R testinde IQ puanı 68 olarak saptandı. Rekombinan insan büyüme hormonu RhGH tedavisi başlanan olgunun 13 yaş 6 aylık iken spontan menarşı oldu. Bu olgu sunumu ile i TS’nede nadir görülen bu mozaisizmin 45,X/47,XXX klinik özelliklerini, ii pubertal bulguları normal olsa dahi boy kısalığı ile başvuran tüm kız olgularda karyotip analizinin yapılarak mozaik Turner sendromunun ayırıcı tanıda düşünülmesi gerekliliği vurgulanmak istenmiştir

Anahtar Kelimeler

Turner sendromu, boy kısalığı, 45, X/47, XXX

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

Öz

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 was consistent with 11 years. FSH was 5.99 mIU/mL, LH 2.94 mIU/mL, and E2 < 20 pg/mL. The result of karyotype analysis was reported to be 45.X/47.XXX. She had no renal abnormality and echocardiogram revealed no pathological finding except minimal mitral valve regurgitation. WISC-R intelligence test was performed due to poor school skills and her IQ score was reported as 68. Recombinant human growth hormone treatment was started and at follow up, she had spontaneous menarche at the age of 13.5 years. With this report, it was aimed to emphasize i the clinical features of this rare 45.X/47.XXX mosaicism and ii the necessity of considering mosaic Turner syndrome in differential diagnosis and determining karyotype in all girls with short stature despite normal pubertal development

Anahtar Kelimeler

Turner syndrome, short stature, 45.X/47.XXX

Kaynakça

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