Turner sendromu tanılı çocuklarda büyüme hormonu tedavisine yanıtı etkileyen faktörler ve IGF-1 düzeyleri ile ilişkisinin retrospektif olarak incelenmesi
Küçük Resim Yok
Dosyalar
Tarih
2022
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Ege Üniversitesi, Tıp Fakültesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Turner Sendromu, en sık görülen cinsiyet kromozom bozukluğu olup canlı doğan her kız bebekten 1500’de bir ila 2500’de birinde görülmektedir. Boy kısalığının kızlarda en sık sebeplerinden biri olan TS’nda, bu durumun önlenmesi amacıyla 1983 yılında bulunan rekombinant insan büyüme hormonu (rBH) kullanılmaktadır. RBH tedavisinin başarısını etkileyen birçok faktör bulunmaktadır. Şimdiye kadar etkisi olduğu gösterilen faktörler ebeveynlerin boyları ve dolayısıyla hedef boy, tedaviye başlama yaşı, puberte öncesi rBH tedavisi verilen süre, toplam rBH tedavi süresi ve yüksek rBH dozudur. Amaç: Bu çalışmanın amacı, Turner sendromlu bireylerde yıllık büyüme hızı ve final boya etkisi olan faktörlerin incelenmesi, özellikle IGF-1 değerleri arasındaki kişisel farklılıkların irdelenmesi ve sonuç olarak kişiye yönelik bireysel tedavi stratejileri belirlenirken bunlardan faydalanmaktır. Gereç ve Yöntem: Ege Üniversitesi Çocuk Endokrinoloji ve Diyabet Bilim Dalı’nda takipli 2000-2022 yılları arasında rBH tedavisi başlanan, takipleri düzenli olan ve bu süre içerisinde tedavisi tamamlanan 25 olgunun arşiv dosyaları incelenerek, oksolojik, klinik ve laboratuvar bulguları kaydedildi. Bulgular: Olgularımızın ortalama rBH tedavisi başlama yaşı 9,74±2,35, tedavi başlangıcında ortalama boyu 118,28±11,98 cm olarak bulunmuştur. Ortalama rBH tedavi süresi 5,40 (2,06-9,81) yıl olarak kaydedilmiştir. Olgularımızın rBH tedavisi bitiminde ortalama boyunun 149,30±5,9 cm, ortalama boy SDS’sinin ise (ulusal referans çizelgelerine göre) -2,02±0,94 SDS olduğu görülmüştür. Olgularımızın rBH başlangıcında boylarının kısa ve uzun vadede büyüme yanıtı ile pozitif yönde korelasyon gösterdiği literatüre uygun olarak bulundu. Hedef boy ile final boy arasında bir ilişki saptanmadı. RBH tedavisi altında ilk 6 ayda IGF-1 değerlerinin artış gösterdiği, sonrasında düşüş trendine girdiği ancak sonuç olarak her zaman bazal değerlere göre artmış olduğu görüldü. IGF-1 değerlerinin değişimi ile kısa vadeli boy SDS değişimi arasında bir korelasyon saptanmadı. Karyotipin kısa ve uzun vadeli büyüme cevabına etkisi olmadığı literatüre uygun olarak bulundu. Sonuç: RBH, TS’lu birçok olguda belirgin olan boy kısalığının tedavisinde önemli bir tedavi modalitesidir. Büyüme yanıtını etkileyen faktörlerin tespit edilmesi ve mümkünse değiştirilmesi tedavi başarısını etkileyecek, kişiye yönelik bireysel tedavi stratejilerinin oluşturulmasına yardımcı olacaktır.
Turner Syndrome is the most common sex chromosome disorder, affecting 1 in 1500 to 2500 out of every live-born female baby. In TS, which is one of the most common causes of short stature in girls, recombinant human growth hormone (rGH), which was discovered in 1983, is used to prevent this condition. There are many factors that affect the success of rGH treatment. Factors that have been shown to have an impact so far are parents' heights and thus target height, age at onset of treatment, time given rGH treatment before puberty, total rGH treatment time, and high rBH dose. Objective: The aim of this study is to examine the factors that affect the height velocity and final height in individuals with Turner syndrome, to examine the individual differences between IGF-1 values and, as a result, to benefit from these when determining individual treatment strategies. Materials and methods: Archive files of 25 patients, who were followed up in Ege University Department of Pediatric Endocrinology and Diabetes, for whom rGH treatment was started between 2000-2022, whose follow-up was regular and whose treatment was completed within this period, were analyzed and their oxological, clinical and laboratory findings were recorded. Results: The mean age at onset of rGH treatment was 9,74±2,35 cm, and the mean height at the start of treatment was 118,28±11,98 cm. The mean duration of rGH treatment was recorded as 5,40 (2,06-9,81) years. At the end of rGH treatment, the mean height of our cases was 149,30±5,9 cm, and the mean height SDS (according to national reference charts) was -2,02±0,94 SDS. It was found in accordance with the literature that the height of our cases at the onset of rBH was positively correlated with the growth response in the short and long term. No correlation was found between target height and final height. It was observed that IGF-1 values increased in the first 6 months under rGH treatment, then entered a downward trend, but always increased compared to baseline values as a result. No correlation was found between the change in IGF-1 values and the change in short-term height SDS. It was found in accordance with the literature that karyotype had no effect on short and long-term growth response. Conclusion: rGH is an important treatment modality in the treatment of short stature, which is evident in many patients with TS. Identifying and, if possible, changing the factors affecting the growth response will affect the success of the treatment and will help to establish individual treatment strategies for the individual.
Turner Syndrome is the most common sex chromosome disorder, affecting 1 in 1500 to 2500 out of every live-born female baby. In TS, which is one of the most common causes of short stature in girls, recombinant human growth hormone (rGH), which was discovered in 1983, is used to prevent this condition. There are many factors that affect the success of rGH treatment. Factors that have been shown to have an impact so far are parents' heights and thus target height, age at onset of treatment, time given rGH treatment before puberty, total rGH treatment time, and high rBH dose. Objective: The aim of this study is to examine the factors that affect the height velocity and final height in individuals with Turner syndrome, to examine the individual differences between IGF-1 values and, as a result, to benefit from these when determining individual treatment strategies. Materials and methods: Archive files of 25 patients, who were followed up in Ege University Department of Pediatric Endocrinology and Diabetes, for whom rGH treatment was started between 2000-2022, whose follow-up was regular and whose treatment was completed within this period, were analyzed and their oxological, clinical and laboratory findings were recorded. Results: The mean age at onset of rGH treatment was 9,74±2,35 cm, and the mean height at the start of treatment was 118,28±11,98 cm. The mean duration of rGH treatment was recorded as 5,40 (2,06-9,81) years. At the end of rGH treatment, the mean height of our cases was 149,30±5,9 cm, and the mean height SDS (according to national reference charts) was -2,02±0,94 SDS. It was found in accordance with the literature that the height of our cases at the onset of rBH was positively correlated with the growth response in the short and long term. No correlation was found between target height and final height. It was observed that IGF-1 values increased in the first 6 months under rGH treatment, then entered a downward trend, but always increased compared to baseline values as a result. No correlation was found between the change in IGF-1 values and the change in short-term height SDS. It was found in accordance with the literature that karyotype had no effect on short and long-term growth response. Conclusion: rGH is an important treatment modality in the treatment of short stature, which is evident in many patients with TS. Identifying and, if possible, changing the factors affecting the growth response will affect the success of the treatment and will help to establish individual treatment strategies for the individual.
Açıklama
Anahtar Kelimeler
Turner Sendromu, Rekombinant Büyüme Hormonu, Boy Kısalığı, Turner Syndrome, Recombinant Growth Hormone, Short Stature
