Original Article

The Evaluation of Etiological Distribution and the Rate of Congenital Hypothyroidism among the Cases Referred from National Screening Program


  • Zeynep Donbaloglu
  • Şenay Savaş Erdeve
  • Semra Çetinkaya
  • Zehra Aycan

J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 30630811


The aim of this study was to evaluate cases referred from congenital hypothyroidism screening program.


Infants referred to Pediatric Endocrinology Polyclinic between 30.09.2015 - 01.04.2018 dates, because of suspected congenital hypothyroidism within the scope of Ministry of Health National Neonatal Screening Program were prospectively evaluated.


Of the 109 newborns referred to our clinic, 60 (55%) were diagnosed with CH. The diagnosis of CH were both done in 52 (47.7 %) and 8 (7.3 %) infants as a result of the initial evaluation and follow up. The mean first and second heel prick times were 1.8 (0 - 7) and 8.72 (4 - 30) days. The mean age of the 52 infants whose treatment was initiated as a result of initial evaluation was 22.13 (7 - 53) days. There were clinical findings can be releated to hypothyroidism in 19 (%36) patients. There was agenesis in 1 (2.08%) patient, ectopia in 1 (2.08%) patients, hypoplasia in 14 (29.16%) patients, normal gland in 16 (33.3%) patients and hyperplasia in 16 (33.3%) patients diagnosed with CH on admission. TSH and fT4 level normalization time after the treatment was 11.02(4 - 30) days and 9.03(3 - 30) days, respectively.


The rate of diagnosis in the first month was found to be 87%. The mean time of initiation of treatment was 22(7-53) days. Dysgenesis rate was 33.3% and dyshormonogenesis rate was 33.3%. The majority of cases with normal thyroid gland will be diagnosed with transient hypothyroidism but some of them may be diagnosed with thyroid dyshormonogenesis.

Keywords: Congenital Hypothyroidism; Neonatal Screening Program; Newborn; Thyroid Hormones