Pogadayeva N. Optimization of diagnostics and treatment of children with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

Object of the study: congenital adrenalhyperplasia (СAH) due to 21-hydroxylase (21-OH) deficiency. Aim of the study: to study clinical and laboratory features of the disease in children with СAH due to 21-OH deficiency; epidemiology of CAH based on the data of neonatal screening (NS) and optimize the treatment strategy of CAH in Ukraine.Novelty: for the first time in Ukraine according to the established database of children with CAH due to 21-hydroxylase deficiency, the epidemiology of the disease has been studied, the state of physical, sexual development of children and hormonal compensation were assessed. For the first time it was found that frequency of benign testicular adrenal rest tumors in boys with CAH in Ukraine is 15.4%, as a result of long-term hormonal decompensation and we proved their regression in case of adequate long-term hormone replacement therapy. Algorithm of the diagnosis of non-classical form of CAH using modern diagnostic methods, including genetic has been improved. Reference values of 17-OHP in preterm infants based on gestational age and birth weight were defined.