Adrenogenital syndrome: past, present, and future

Abstract

Adrenogenital syndrome is a group of pathological conditions with autosomal recessive inheritance underlain by the deficit of one of the enzymes involved in cortisol biosynthesis. The first clinical reports of patients with adrenogenital syndrome date back to the XIXth century. The literature of the early XXth century offers comprehensive clinical characteristics of the disease along with the first attempts at its classification. The progress in biochemistry and pharmacology in the mid-XX century provided knowledge for the explanation of the nature of adrenogenital syndrome and the development of methods of pathogenetically-grounded therapy of this pathology. The advent of the era of breakthroughs in molecular genetics was marked by the elucidation of underlying causes of congenital adrenal dysfunction. At present, neonatal screening makes it possible to diagnose adrenogenital syndrome in 100% of the patients and thereby ensure prevention of mortality from salt-losing crisis. Modern techniques are used not only for prenatal diagnostics but also for preimplantation prophylaxis of adrenogenital syndrome. At the same time, extensive investigations bring to light new forms of the disorder. Recent progress in genetics gives hope that even more efficacious methods of genotherapeutic modalities will be proposed for the management of chronic pathology in question.