Sercan Yücel YANMAZ, Edip ÜNAL, Funda Feryal TAŞ, Ruken YILDIRIM, Yusuf Kenan HASPOLAT

Konjenital Hipotiroidi Tanısıyla Takip Edilen Hastaların Klinik ve Laboratuvar Özellikleri

GİRİŞ: Konjenital hipotiroidi (KH) günümüzde hala çocuklarda önlenebilir mental retardasyonun en sık sebeplerindendir. Bu çalışmada kalıcı ve geçici konjenital hipotiroidili vakaların etyolojileri, laboratuvar bulguları, tedavi dozları ve süreleri karşılaştırılmıştır. GEREÇ ve YÖNTEM: Konjenital hipotiroidi tanısı ile en az 3 yıl takip edilen 106 hasta (42 kız, 64 erkek) çalışmaya alındı. Hastaların dosyaları retrospektrif olarak tarandı. Tanı anında, tedavinin birinci, ikinci ve üçüncü yılında ve tedavi kesildikten 4-6 hafta sonra bakılan TSH, FT4, FT3, boy SDS, kilo SDS ve tedavi dozları not edildi. BULGULAR: Hastaların %41.5’inde kalıcı KH, %58.5’inde ise geçici KH saptandı. Kalıcı hipotiroidilerin en sık sebebi tiroid disgenezileri (%34) iken, geçici KH’li hastalarda en sık sebep dishormonogenezis (%38,7) idi. En sık saptanan semptomlar uzamış sarılık ve kabızlıktı. Hastaların büyük çoğunluğunu tarama testi sonucuyla polikliniğe yönlendirilen (%27.4) ve tarama testi sonucunu beklemeden rutin muayene amaçlı polikliniğimize başvuran (%27.4) hastalar oluşturmaktaydı. Gruplar arasında tanı esnasındaki serum TSH, sT4 ve sT3 seviyeleri açısından anlamlı fark yoktu (sırası ile p=0.955, p=0.532, p=0.23). Geçici KH grubunda tiroglobulin düzeyi anlamlı olarak yüksekti (p=0.026). Takiplerde kalıcı KH’li hastaların FT3 düzeyleri anlamlı ölçüde daha düşük idi. (sırasıyla p=0.003, p=0.017, p=0.032). SONUÇ: Çalışmamızda geçici KH oranının daha yüksek olduğu ve geçiçi KH’lilerin büyük çoğunluğunun dishormonogenezise bağlı olduğu görülmüştür. Tanı anındaki tiroid hormonu seviyelerinin kalıcı ve geçici KH ayırımında belirleyici olmadığı gösterilmiştir. Ancak takiplerde ihtiyaç duyulan ilaç dozunun ve TSH düzeyinin yüksek olması ve FT3 seviyesinin düşük seyretmesi kalıcı KH’yi ayırt etmede kullanılabileceği sonucuna varılmıştır.

Anahtar Kelimeler:

Konjenital hipotiroidi, geçici hipotiroidi

Clinical and Laboratory Characteristics of Patients with Congenital Hypothyroidism

INTRODUCTION: Congenital hypothyroidism (CH) is still the most common cause of mental retardation. ln this study, etiology, laboratory findings, treatment doses, durations of permanent and transient CH cases were compared. METHODS: 106 patients (42 female, 64 male) who had been treated for CH for at least 3 years were included. Patients’ files were retrospectively scanned. TSH, FT4, FT3, height, weight and treatment doses, findings at the first time of diagnosis, first, second, and third year of treatment and 4-6 weeks after the treatment was ended, were noted. RESULTS: Permanent CH was found in 41.5% of patients and transient CH was found in 58.5% of patients. The most common cause of permanent hypothyroidism was thyroid dysgenesis (34%). dyshormonogenesis (38.7%) was the most frequent cause in patients with transient CH. The most common symptoms were hyperbilirubunemia and constipation. 27 % of the patients were referred to the outcome screening program and 27% of the patients were visited for routine control. Serum TSH, FT4 and FT3 levels at diagnosis were not significantly different between the groups (p = 0.955, p = 0.532, p = 0.23). The level of thyroglobulin was significantly higher in the transient CH group (p =0,026). FT3 levels of patients with permanent CH were significantly lower during follow-up.( p= 0.003, p = 0.017, p = 0.032). CONCLUSION: In our study, it is found that the ratio of transient CH is higher and most of the transient cases were attributed to dyshormonogenesis. It is shown that the thyroid hormone levels at the time of diagnosis is not significantly different in the differential diagnosis of permanent and transient CH. However, it is concluded that the need for higher dose in the treatment during follow up and the higher TSH levels, and the lower fT3 levels can be used in diagnosis of permanent CH.

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1. Andersson M, de Benoist B, Rogers L. Epidemiology of iodine deficiency: salt iodisation and iodine status. Best practice & research Clinical endocrinology & metabolism, 2010;24(1):1-11.
2. Koloğlu S, Koloğlu B. Türkiye'de endemik guatr. Ankara: Elif Matbaacılık; 1984: 1-64.
3. Rastogvi M, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis. 2010; 5:17.
4. LaFranchi SH. Approach to the diagnosis and treatment of neonatal hypothyroidism. The Journal of Clinical Endocrinology & Metabolism 2011; 96(10): 2959-2967.
5. Nair PS, Sobhakumar S, Kailas L. Diagnostic re-evaluation of children with congenital hypothyroidism. Indian Pediatr. 2010; 47:757–60.
6. Kang MJ, Chung HR, Oh YJ, Shim YS, Yang S, Hwang IT. Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism. Pediatrics and Neonatology (2017) 58, 442-448
7. Andıran N. Hipotiroidi. Editörler Cinaz P, Darendeliler F, Akıncı A, Özkan B, Dündar BN, Abacı A, Akçay T.Çocuk Endokrinolojisi, İstanbul,: Nobel tıp kitabevleri ;2013:315-333
8. Bezen D, Dilek E, Torun N et al. Etiological evaluation of primary congenital hypothyroidism cases. Turkish Archives of Pediatrics/Türk Pediatri Arşivi, 2017; 52(2): 85-91
9. Kurtoğlu S, Akın MA. Konjenital hipotiroidizm. İçinde: Kurtoğlu S, editor. Yenidoğan dönemi endokrin hastalıkları. İstanbul: Nobel Matbaacılık; 2011;449-73.
10. Gaudino R, Garel C, Czernichow P, Léger J. Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study. Clinical endocrinology, 2005; 62(4):444-448.
11. Hashemipour M, Hovsepian S, Kelishadi R, et al. Permanent and transient congenital hypothyroidism in Isfahan–Iran. Journal of Medical Screening, 2009;16(1):11-16.
12. Tamam M, Adalet I, Bakir B, et al. Diagnostic spectrum of congenital hypothyroidism in Turkish children. Pediatrics International, 2009; 51(4): 464-68.
13. Fisher DA, Klein AH. Thyroid development and disorders of thyroid function in the newborn. New England Journal of Medicine, 1981;304(12):702-712.
14. Rose SR, Brown RS, Foley T, et al. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics, 2006;117(6): 2290-2303.
15. Lombard F, la-Vale F, Veyrac C, et al. Severe hypothyroidism after contrast enema in premature infants. European journal of pediatrics 2009;168(4): 499-500.
16. Weber G, Vigone MC, Rapa A, et al. Neonatal transient hypothyroidism: aetiological study. Archives of Disease in Childhood-Fetal and Neonatal Ed 1998; 79(1): 70-72.
17. Ünüvar T, Demir K, Abacı A, et al. The role of initial clinical and laboratory findings in infants with hyperthytropinemia to predict transient or permanent hypothyroidism. J Clin Res Endocrinol 2013; 5:170-3.
18. Erdoğan MF. The Iodine Status of Turkey: Where Were We? Where are We Now? Türkiye Klinikleri J Endocrin Special Topics 2008; 1: 8-13.
19. Ordookhani A, Pearce EN, Mirmiran P. Transient congenital hypothyroidism in an iodine-replete area is not related to parental consanguinity, mode of delivery, goitrogens, iodine exposure, or thyrotropin receptor autoantibodies. Journal of endocrinological investigation 2008; 31(1):29-34.
20. Brown RS, Huang S. The thyroid and its disorders. In: Brook CGD, Clayton PE, Brown RS, editors. Clinical Pediatric Endocrinology. 5th ed. Blackwell Publishing;2005:218-53.
21. Hatipoğlu N, Büyükkayhan D, Kurtoğlu S. Yenidoğan dönemi tiroid hastalıkları. Türkiye Klinikleri Pediatrik Bilimler Pediatrik Endokrinoloji Özel Sayısı 2006;10:63-82.
22. Skordis N, Toumba M, Savva SC, Erakleous E, Topouzi M, Vogazianos M, et al. High prevalence of congenital hypothyroidism in the Greek Cypriot population: results of the neonatal screening program 1990-2000. J Pediatr Endocrinol Metab 2005 May;18(5):453-61.
23. Silva LO, Dias VM, Silva IN, et al. Congenital transient hypothyroidism: characteristics of children identified at Newborn Screening Program of the State of Minas Gerais, Brazil. Arquivos Brasileiros de Endocrinologia & Metabologia, 2005. 49(4): 521-528.
24. Yang RL, Zhu ZW, Zhou XL, Zhao ZY. Treatment and follow-up of children with transient congenital hypothyroidism. J Zhejiang Univ Sci B 2005 Dec;6(12):1206-9.