Objective: Congenital hypothyroidism; currently, it is one of the most common causes of preventable mental retardation in children. Thyroid dysgenesis, thyroid hormone production and efficacy disorders or temporary hypothyroidism can be seen with the tables. In this study; The aim of this study was to evaluate the etiology and prognosis of congenital hypothyroid patients guided by national screening and neonatal centers. In this way; Our aim is to produce the solution for the causes of transient hypothyroidism which can be prevented by uncovering the most common causes of congenital hypothyroidism specific to our region and our country.
Materials and Methods: 132 cases of national congenital hypothyroidism screening or treatment were started between 2008-2018 in Gaziantep University Medical Faculty Department of Pediatric Endocrinology; Anamnesis, clinical, laboratory and prognostic features were evaluated. Age, height, weight, gender, thyroid stimulating hormone, free T4, thyroglobulin, iodine concentration in urine, antithyroid antibodies, thyroid ultrasound, scintigraphy, treatment doses and duration of treatment were determined.
Findings: The cases; 68 (51.5%) were female and 64 (48.5%) were male. In the follow-up of these cases; 74 (56%) patients were diagnosed with transient hypothyroidism and 58 patients (44%) with permanent hypothyroidism. In the etiological evaluation of patients with permanent hypothyroidism; Agenesis in 24 (41.4%), hypoplasia in 16 (27.6%), ectopic thyroid in 7 (12%), dishormonogenesis in 5 (8.7%), hemiagenesis in 4 (6.9%), and central hypothyroidism in 2 cases (3.4%) detected. In the etiologic evaluation of patients with transient hypothyroidism; Iodine loading in 39 cases (52.7%), iodine deficiency in 23 cases (31.1%) and hypothyroidism due to prematurity were found in 12 cases (16.2%).
Conclusion: This study; In addition to iodine deficiency, iodine loading is an important problem for our country and it is striking that it is first among all causes of congenital hypothyroidism. iodine-containing solutions to the infant (belly care) and to the mother before and after the birth cause iodine overload. For this reason, it is necessary to develop policies throughout the country in order to prevent this situation which creates a serious problem for newborn babies. Iodine levels in urine must be measured in all centers. In this way; In addition to the detection of the problem, there will be a chance to interrupt the treatment to be started earlier.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology