Turner Sendromlu 40 Vakanın Klinik Özellikleri

Year 2010, , 29 - 32, 01.01.2010

İhsan Esen Mehmet Sadi Vidinlisan Fatma Demirel Halil İbrahim Yakut

https://doi.org/10.5222/j.child.2010.029

Abstract

Amaç: Turner sendromlu hastaların fiziksel özellikleri, sitogenetik bulguları ve otoimmün hastalıklardan Hashimoto tiroiditi ve çölyak hastalığının sıklığını araştırmak amaçlandı. Gereç ve Yöntem: Turner sendromu tanılı 40 hastanın yaş ortalaması 13.9±3.9 yıl 5.2-20.2 dosyası geriye dönük olarak tarandı. Hastalar klinik ve sitogenetik özellikleri yönünden değerlendirildi. Ayrıca otoimmün hastalıklardan Hashimoto tiroiditi ve çölyak hastalığı araştırıldı. Final boyuna ulaşmış hastaların boylarının ebeveyn boyları ile olan ilişkisi irdelendi.Bulgular: Yirmi bir hastanın 45,X % 52.5 , 8 hastanın mozaik tipte % 20.0 olduğu geriye kalan 11 hastanın % 27.5 ise X kromozomuna ait değişik anomaliler taşıdığı görüldü. Vakaların boy standart sapmalarının ortalaması -4.41±1.10 idi. Final boyuna ulaşmış dokuz hastanın boy ortalaması 141.7±5.8 cm 133.5-151.6 , boy SDS ortalaması -3.61±1.00 [ -5.04 - -1.93 ] olarak saptandı. Bu hastaların boyları ile hedef boyları ve anne boyları arasında korelasyon saptanmadı [Sırası ile r = 0.486 p=0.129 ve r=0.461 p=0.153 ]. Dört hastada anti TPO, üç hastada anti Tg pozitifliği saptandı. Subklinik hipotiroidisi olan bir hasta dışında tüm hastaların tiroid fonksiyon testleri normal sınırlardaydı. Hem anti Tg hem anti TPO pozitifliği olan bir hastanın subklinik hipotiroidisi olduğu gözlendi. On iki hastada % 30 anti gliadin IgA ve/veya anti endomisyum antikor pozitifliği saptandı ve çölyak hastalığı yönünden biyopsi ile değerlendirildi. Hastalarımızın biyopsi örneklerinde patoloji bulgu saptanmadı.Sonuç: Vakaların fenotipik bulguları, taşıdıkları sitogenetik anomaliler ile korele bulundu. 45,X karyotipine sahip hastalarda klinik bulguların daha belirgin olduğu saptandı. Otoimmün hastalık sıklığının yaşla arttığı göz önünde bulundurularak Turner sendromlu hastaların otoimmün hastalıklar açısından periyodik aralıklarla taranmasının uygun olacağı düşünüldü

Keywords

Çölyak hastalığı, Hashimoto tiroiditi, Turner sendromu

Clinical Fatures of 40 Cases With Turner Syndrome

Abstract

Objectives: The aim of this study is to investigate cytogenetic and physical findings, and to determine frequency of Hashimoto’s thyroiditis and celiac disease in patients with Turner syndrome TS . Material and Method: The medical records of 40 patients with TS whose mean age was 13.9±3.9 year, were retrospectively reviewed. The diagnosis of TS was based on cytogenetic findings. Each patient was screened for thyroid abnormalities and celiac disease. The heights of patients who reached final height were evaluated according to their mother’s heights and mid-parental heights. Results: The karyotype was 45,X in 21 patients 52.5 % , mosaic in 8 patients 20.0 % and structural disturbances in 10 patients 27.5 % . The average of SD scores of patient’s heights was -4.41±1.10. The average of heights of eleven patients who reached final height was 141.7±5.8 cm. No significant correlation was found between heights of patients with their mother’s heights and mid-parental heights. Patients who have karyotype 45,X presents with severe clinical manifestations. Four patients were anti TPO positive and three patients were anti Tg positive. All patients had normal thyroid function except one who has subclinical hypothyroidism. Twelve patients who were either anti gliadin IgA or anti endomisyum positive, subsequently were investigated with intestinal biopsy, none of them manifested histological findings of celiac disease. Conclusion: The severity of physical features of patients with TS was associated with cytogenetic findings. Because of the prevalence of autoimmune diseases increases with advancing age, patients with TS must screen for Hashimoto’s thyroiditis and celiac disease periodically.

Keywords

Celiac disease, Hashimoto’s thyroditis, Turner syndrome

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