Currently, more than 70% of hereditary diseases can be considered rare, since their occurrence in the population is only 2%. Regular epidemiological studies show that the frequency of detection of hereditary diseases in the pediatric population is increasing. In connection with this trend, diagnostics is also improving. Congenital adrenal cortical deficiency has been included in neonatal screening since 2006. The presented clinical case demonstrates a combination of hereditary diseases in one patient, in this case, congenital dysfunction of the adrenal cortex and von Willebrand disease. The described clinical example is the result of observation of a child from birth to 15 years of age, with the features of the combined course of two diseases, the selection of drug therapy. The diagnosis of congenital dysfunction of the adrenal cortex was made from birth and confirmed genetically, the child received therapy with mineralocorticoids and glucocorticoids. At the age of 8 months, against the background of an Addisonian crisis, a deficiency of coagulation factor 8 was revealed, in connection with which the drug Factor 8 was added to the therapy, and from the age of 13 – Human coagulation factor VIII human factor von Willebrand. Since the parents did not adhere to medical recommendations, there was no stable compensation for congenital dysfunction of the adrenal cortex, so at the age of 13, the National Medical Research Center of Endocrinology in Moscow adjusted the treatment regimen with hormones. At the age of 15, he was admitted to the Department of Endocrinology of the N.N. Silishcheva Children’s Clinical Hospital with complaints of dizziness, weakness and lethargy. The examination revealed mild anemia, in connection with which iron III hydroxide polymaltose and folic acid were added to the therapy. Against the background of treatment, the patient showed positive dynamics, however, the child requires special monitoring due to the threat of developing a crisis of adrenal insufficiency against the background of stress and infection.
