Clinical Case of Congenital Hypothyroidism

The article presents a clinical case of congenital hypothyroidism. A child (girl) was born from a mother who was diag-nosed with hypothyroidism. The child is from dichorionic diamniotic twins. During intrauterine development, growth retardation of the second fetus was observed. The child was born by Caesarean section, with low body weight; the condition after birth was severe due to respiratory distress syndrome and prematurity. According to the result of neonatal screening, the level of thyroid-stimulating hormone was 305.75 µIU/ml, and ultrasound examination revealed thyroid gland agenesis. A diagnosis of hypothyroidism was made. A slight valvular stenosis of the pulmonary artery, an aneurysm of the interatrial septum with a defect, an incomplete vascularization of the retina of both eyes, and an inguinal hernia were revealed. The presence of dysembryogenesis stigma (hernia, aneurysm of the interatrial septum, low ears, macroglossia, moderate marbled cyanosis, flat-bridged nose, moderate hypotension) indicates the hereditary nature of the disorders. A theoretical analysis of possible candidate genes for the development of hypothyroidism was carried out. It was shown that the TSHR, NKX2-5, THRA, TSHB, TRHR, TBL1X, IRS4, PAX8, FOXE1, NKX2-1 genes are responsible for congenital hypothyroidism. It is noted that these genes are the regulators of the development and maturation of the thyroid gland or encode thyroid hormone receptors. Conclusion. For better understanding the etiopathogenetic mechanisms of the formation of congenital hypothyroid-ism, it is necessary to consider the possibility of confirmatory DNA diagnostics.