The results of therapy of congenital adrenal hyperplasia in children in perm region

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Background. Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders. About 90% of all children with CAH have 21-hydroxylase deficiency which is required for the synthesis of glucocorticoids and mineralocorticodes. The salt-wasting form of CAH develops with a deficiency of both types of hormones. This form of CAH results in infant death if not treated, therefore early disease detection and start of treatment are very important.

Aim of research is to study the clinical features of the course of the disease and evaluate the treatment efficacy of children with salt-wasting form of CAH in the Perm region.

Materials and methods. We conducted an analysis of the clinical features of the salt-wasting form of CAH in 40 children of the Perm region. To evaluate the treatment efficacy following symptoms were analyzed: salty food craving, hyperpigmentation of skin, hirsutism, delayed or accelerated growth, etc. and parameters of water-electrolytic balance, the level of 17-hydroxyprogesterone, adrenocorticotropic hormone, renin.

Results and discussion. Despite the modern possibilities of diagnosing and treating CAH, the complete control of the disease can’t be achieved in all children. Almost all the children examined had either symptoms of replacement therapy failure or overdose symptoms. Hormonal imbalance disorders were performed by a few children without any symptoms of the disease.

Conclusion. During our research we concluded that young children often have issues with an overdose of hormonal drugs and frequent occurrence of salt-wasting crises against the background of associated diseases, while for teenagers, problems associated with an insufficient dose of glucocorticoid drugs are relevant. Also, significant difficulties in the treatment of children with CAH are associated with the short action of hydrocortisone. One way to solve these problems is to organize a school for parents of children with CAH. Creating motivation, explaining the principles of treatment and importance of regular taking of drugs, as well as algorithm in medical emergency is an important step in achieving control for the disease.

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About the authors

Yulia M. Tomilina

Academician E.A. Wagner Perm State Medical University

Author for correspondence.

Resident doctor, Department of Pediatrics with a course of outpatient pediatrics

Russian Federation, Perm

Galina V. Chistousova

Regional Children’s Clinical Hospital


Head of Department of pediatric endocrinology

Russian Federation, Perm

Ludmila V. Sofronova

Academician E.A. Wagner Perm State Medical University


MD, PhD, Dr. Sci. (Med), Professor, Department of Pediatrics with a course of outpatient pediatrics

Russian Federation, Perm


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Supplementary files

Supplementary Files
1. Fig. 1. The main clinical manifestations of glucocorticoid drugs overdose in 33 patients with Congenital adrenal hyperplasia hospitalized on a planned basis

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2. Fig. 2. The average age of children with various causes for the decompensation of CAH, admitted in a planned and emergency manner. ARI — acute respiratory infection

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3. Fig. 3. Virilization of the external genitals in 23 girls participating in this study (percentage of different degrees of virilization)

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Copyright (c) 2021 Tomilina Y.M., Chistousova G.V., Sofronova L.V.

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