RARE CASE OF CONGENITAL ADRENAL HYPERPLASIA

Abstract

In this case presented congenital adrenal hyperplasia in a patient due to 21-hydroxylase deficiency. False female hermaphroditism was caused by hyperandrogenism during pregnancy. As a result, the male gender was mistakenly recorded when born.

The diagnosis was made at the age of three months, but, due to the refusal of the parents, the pathogenetic treatment was not carried out for many years. The patient was brought up as a boy, had no gender dysphoria. Systematic hormone replacement therapy with prednisolone was started only from 31 years after surgery - removal of the uterus and its appendages. The addition of testosterone and symptomatic drugs to the therapy ensured the satisfactory condition of the patient, the preservation of efficiency and male potency. However, the forced withdrawal of testosterone and the change in the dose of prednisolone led to decompensation and deterioration of the general and psycho-emotional state. This is due to the symptoms of hypocortisolemia, a decrease in potency and, as a result, a tense relationship with a sexual partner. Correction of substitution therapy ensured the patient's return to a relatively normal life. Noteworthy is the fact that after removing the uterus and its appendages and restoring hormonal therapy, the patient disappeared epileptic complaints. In addition, at the time of the current examination, the formation of the left adrenal gland was revealed, requiring verification and observation.