Utkucan UÇKUN, Firdevs BAŞ, Şükran POYRAZOĞLU, Nur Mine ŞÜKÜR, Fatma Feyza DARENDELİLER, Rüveyde BUNDAK

BÜYÜME HORMONU EKSİKLİĞİ OLAN HASTALARIN TEMEL ÖZELLİKLERİ

Amaç: Bu araştırmanın amacı büyüme hormonu eksikliği (BHE) olan hastaların karakteristik özelliklerinin ve etiyolojik profillerinin belirlenmesidir Gereç ve Yöntem: Ağır boy kısalığı olan (boy SDS<-3SD) ve randomize seçilmiş 320 olgudan BHE tanısı olan 203 olgu ile araştırma yürütülmüştür Bulgular: 86 hastada (%42,4) idiyopatik BHE, 79 hastada (%39) konjenital BHE, 14 hastada (%6,9) BHE eşlikli sendromlar ve 10 hastada (%5) edinsel BHE saptanmıştır. Sınıflandırılan olgular içinde izole BHE olan 154 (%81,5) ve çoklu hipofizer hormon eksikliği (ÇHHE) olan 35 (%18,5) olgu saptanmıştır. ÇHHE olan BHE etiyoloji gruplarında en sık eşlik eden hormon eksikliği TSH eksikliğidir. Hipofizer patolojiler en sık konjenital ve edinsel BHE olgularında görülmektedir. BHE en sık Noonan sendromuna eşlik etmektedir. Konjenital BHE olgularında kemik yaşı gecikmesi 2 yıl ve üzeri saptanmıştır. Ortalama IGF-1 standart sapma skoru ve ortalama pik büyüme hormonu uyarı testi değeri konjenital BHE’de belirgin olarak düşük saptanmıştır. Sonuç: Oksolojik, klinik ve laboratuvar verilerin titizlikle incelenmesi BHE’nin eşlik ettiği ağır boy kısalığı olan çocukların değerlendirilmesine önemli katkı sağlayabilmektedir.

Anahtar Kelimeler:

Ağır boy kısalığı, çocuk, etiyoloji, büyüme hormone eksikliği

BASELINE CHARACTERISTICS OF PATIENTS WITH GROWTH HORMONE DEFICIENCY

Objective: The aim of this study was to describe the characteristics and the aetiological profile of patients with growth hormone deficiency (GHD) Material and Method: Among randomly selected 320 cases with short stature with a height SDS<-3SD, 203 patients with diagnosis of GHD were evaluated with respect to their characteristics at diagnosis. Results: 86 patients (42.4%) had idiopathic GHD, 79 patients (39%) had congenital GHD, 14 patients (6.9%) had defined syndromes with GHD and 10 patients (5%) had acquired GHD. Number of patients with isolated GHD was 154 (81.5%) and with multiple pituitary hormone deficiency (MPHD) was 35 (18.5%) among classified cases. The most common accompanying hormone deficiency was TSH deficiency in GHD aetiologies with MPHD. Hypophyseal pathologies were most commonly seen in congenital and acquired GHD cases. Noonan syndrome was the most common syndrome with an accompanying GHD. The bone age delay was found to be over 2 years in congenital GHD. The mean IGF-1 SD score and the mean peak growth hormone stimulation tests’ values were significantly low in congenital GHD. Conclusions: Precise assessment of auxological, clinical and laboratory data could provide substantial value in the evaluation of severely short statured children with GHD.

Keywords:

Severe short stature, children, aetiology, hormone deficiency,

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