Relevance of neonatal screening for early diagnosis and timely treatment of congenital hypothyroidism (clinical case)

Annotation. Congenital hypothyroidism (СН) is a variable dysfunction of the hypothalamus-pituitary-thyroid system from birth, which leads to insufficient synthesis of thyroid hormones and, as a result, severe to mild thyroid deficiency. Congenital hypothyroidism can be caused by abnormal development or function of the thyroid, hypothalamus or pituitary gland, as well as by a disruption of the action of thyroid hormones. Neonatal screening for congenital hypothyroidism in Ukraine is carried out as part of the expanded mass screening programme for newborns in accordance with the Order of the Ministry of Health of Ukraine № 2142 of 01.10.2021. The estimated incidence of сongenital hypothyroidism is approximately 1 in 5,400 babies. Purpose of work – presentation of a clinical case of timely diagnosis and treatment of congenital hypothyroidism in a newborn child. A newborn girl N., from the II pregnancy, which was threatened with abortion. Against the background of pre-obstructive nephroptosis, ARVI three times. Ultrasound at 38 weeks – fetal growth retardation syndrome (FGRS), polyhydramnios, placental hypoplasia, marginal umbilical cord attachment. Childbirth II at 38 weeks of gestation. Apgar score at 1 minute – 7 points, at 5 minutes – 8 points. The child's general condition deteriorated during the 1st day of life, and she was transported from the maternity hospital to the regional children's hospital with a diagnosis: Congenital pneumonia caused by other pathogens. Cerebral depression in a newborn. All the necessary laboratory and instrumental research methods were carried out, as well as consultations with related specialists. On the 5th day of life the child underwent extended neonatal screening (positive for CH). The serum TSH level was almost 80 times higher than the age-appropriate norm (>488.0 mIU/ml), and euthyrox was prescribed at a dose of 12.5 mcg per day for hormone replacement therapy. At the age of 18 days, the TSH level remained high (459.441 IU/ml), T4 within 2.56 ng/dl, and after consultation with a paediatric endocrinologist, the euthyrox dose was increased to 37.5 mcg per day. At the age of 1 month, TSH was normalised to 5.950 mIU/ml, free T4 2.36 ng/dl, 17-α-oxyprogesterone 19.217 nmol/l. The final clinical diagnosis: Congenital pneumonia caused by other pathogens. Cerebral depression in the newborn. Polycythemia of the newborn. Congenital hypothyroidism without goiter. Small fetal size for gestational age. The child was discharged from the hospital at the age of 34 days with recommendations to continue euthyroid replacement therapy with 25 mcg in the morning under constant monitoring of TSH, T4 every 3 months. Hypothyroidism in newborns can have serious consequences for physical and intellectual development if it is not diagnosed and treated in a timely manner. Neonatal screening, timely diagnosis when the first signs of the disease appear, and early treatment significantly reduce the risk of disability.