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

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

METHODS: 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.

RESULTS: 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.

CONCLUSION: 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.