Taner ÖZGÜR, Erdal EREN, Yahya GÜL, Halil SAĞLAM, Ömer TARIM, Aysel ZENGİN, Esra Deniz P. ÇAKIR

Konjenital hipotiroidili olguların değerlendirilmesi: Ulusal tarama programının etkisi

Giriş: Konjenital hipotiroidi (KH) önlenebilir mental retardasyonun en sık nedenidir. Hastalık belirti vermeden seyredebilmekte ve mental retardasyon gibi ağır komplikasyonlarla sonuçlanmaktadır. Bu nedenle ülkemizde Aralık 2006’dan itibaren KH tarama programı başlatılmış ve böylece erken tanı ve tedavi imkânı sağlanmış, olası komplikasyonlar önlenmiştir. Bu çalışmada Ulusal KH Tarama programının hastalığın seyri üzerindeki etkilerinin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: Kliniğimizde KH nedeniyle izlenen 140 olgunun dosyaları retrospektif olarak incelendi. Programın öncesinde ve sonrasında KH tanısı alan olguların bulguları kıyaslandı. Bulgular: Olguların 74’ü (%52,9) kız, 66’sı (%48,4) erkek idi. En sık başvuru nedenlerini; sarılık (%32,1), konstipasyon (%32,1), TSH yüksekliği nedeniyle sevk (%25,7) ve büyüme geriliği (%10,7) oluşturmaktaydı. Tiroid bezinin sintigrafik ve sonografik değerlendirmesine göre (32 olgu) KH nedeni; %43,7 dishormonogenezis, %43,7 tiroid agenezisi, %12,6 ektopik tiroid olarak saptandı. Tedavi başlama yaşı tarama programı öncesinde 370,9±704,6 gün iken (108 olgu), sonrasında 35,2 gün±48,3 (32 olgu) olarak bulundu. Mental retardasyon tanısı alan 36 olgunun 35’i tarama öncesi tanı almıştı. Tarama sonrası tanı alan hastaların ortalama boy SDS’leri tarama öncesi grupla karşılaştırıldığında anlamlı derecede daha iyiydi (p=0,02). Başvuruda ortalama serum TSH 144,8±227,1 mIU/ml, TT4 4,92±4,44 mcg/dl, ST4 0,63±0,41 ng/l idi. Sonuç: Ulusal KH tarama programından sonra mental retardasyonlu olgu sayısının belirgin derecede azalması bu programın önemini bir kez daha göstermektedir. (Güncel Pediatri 2011; 9: 28-33)

Evaluation of the patients with congenital hypothyroidism: Effect of the national screening program

Introduction: Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. The course of the disease can be silent and may cause serious health problems when the diagnosis is delayed. “Screening Program for CH” has facilitated early diagnosis and treatment preventing severe complications. Materials and Method: The records of the 140 patients with CH were retrospectively analyzed. The patients with CH were compared before and after the screening program. Results: Of the 140 cases, 74 (52.9%) were female and 66 (48.4%) were male. The clinical presentations of the patients with CH were jaundice (32.1%), constipation (32.1%), referral due to high TSH (25.7%), and growth retardation (10.7%). The etiologies of CH based on scintigraphic imaging of the thyroid gland (32 cases) were thyroid dyshormonogenesis in 43.7%, thyroid agenesis in 43.7%, and ectopic thyroid in 12.6%. The mean age at diagnosis was 292±632 days (370.9±704.6 days before screening, 35.2±48.3 days after screening). A total of 36 patients were diagnosed with mental retardation (35 were diagnosed prior to screening). Mean height SDS of patients diagnosed after screening program was significantly higher than that of those diagnosed before screening program (p=0.02). Mean serum TSH, TT4, and FT4 at admission were 144.8±227.1 mIU/ml, 4.92±4.44 mcg/dl, and 0.63±0.41 ng/L, respectively. Conclusions: Significant reduction in the number of patients with mental retardation after the screening program shows once again the importance of this program. (Journal of Current Pediatrics 2011; 9: 28-33)

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