Congenital dysfunction of the adrenal cortex in males (clinical case)

Kravchenya Aliya Rimovna, Polidanov Maxim Andreevich, Kondrashkin Ivan Evgenievich, Tyapkina Darya Andreevna, Blokhin Igor Sergeevich, Borodai Alexandra Alexandrovna, Kravchenya Danila Sergeevich, Meshcheryakova Alina Yurievna

Back in the XIX century. the first clinical descriptions of patients with adrenogenital syndrome appeared, and then at the beginning of the twentieth century – the first attempts to classify the syndrome. In the middle of the twentieth century, with the development of biochemistry and pharmacology, it was possible to explain the pathogenesis of this condition and offer pathogenetic therapy, and then with the advent of the era of molecular genetics to identify the cause of congenital dysfunction of the adrenal cortex. Currently, 100% diagnosis of adrenogenital syndrome is carried out on the basis of neonatal screening. The article presents a clinical observation of a patient with adrenogenital syndrome. This clinical case indicates that in some cases a broad differential diagnosis is required to clarify the true nature of the disease. A decrease in testicular function may be associated with both unsatisfactory compensation of the disease and the development of ectopic adrenal tissue in the testicles of TART.

Keywords:adrenogenital syndrome, congenital dysfunction of the adrenal cortex, TART, decreased fertility, neonatal screening.