Russian clinical practice guidelines «congenital adrenal hyperplasia»

Author:

Mokrysheva N. G.1ORCID,Melnichenko G. A.2ORCID,Adamyan L. V.3ORCID,Troshina E. A.1ORCID,Molashenko N. V.1ORCID,Sazonova A. I.1ORCID,Uvarova E V.4ORCID,Esayan R. M.5ORCID,Andreeva E. N.1ORCID,Uzhegova Z. A.1ORCID,Kareva M. A.1ORCID,Kalinchenko N. Yu.1ORCID,Shifman B. M.1ORCID,Fadeev V. V.6ORCID,Biryukova E. V.3ORCID,Antsiferov M. B.7ORCID,Suplotova L. A.8ORCID,Kiseleva T. P.9ORCID,Yarmolinskaya M. I.10ORCID,Suturina L. V.1

Affiliation:

1. Endocrinology Research Centre

2. Endocrinology Research Centre; I.M. Sechenov First Moscow State Medical University (Sechenov University)

3. A.I. Yevdokimov Moscow State University of Medicine and Dentistry

4. I.M. Sechenov First Moscow State Medical University (Sechenov University); Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology

5. Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology

6. I.M. Sechenov First Moscow State Medical University (Sechenov University)

7. Endocrinology Dispensary of the Moscow Healthcare Department

8. Tyumen State Medical University

9. Ural State Medical University

10. D.O. Ott Scientific and Research Institute of Obstetrics, Gynaecology and Reproductive Medicine named after; I.I. Mechnikov Northwestern State Medical University

Abstract

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by a defect in one of the enzymes or transport proteins involved in the cortisol synthesis in the adrenal cortex. The most common form of CAH, which occurs in more than 90% of cases, is a 21-hydroxylase enzyme deficiency. The latter is subdivided into nonclassical and classic (salt-losing and virilizing) forms. The prevalence of classic forms of 21-hydroxylase deficiency ranges from 1: 14,000 to 1:18,000 live births worldwide. According to the data of neonatal screening in the Russian Federation, the prevalence of the disease in some regions ranges from 1: 5000 to 1: 12000, in the country as a whole - 1: 9638 live newborns. The non-classical form of CAH occurs more often - from 1: 500 to 1: 1000 among the general population. In second place is the hypertensive form of CAH - a deficiency of 11β-hydroxylase, which, according to the literature, occurs in about 1 per 100,000 newborns. These clinical guidelines were compiled by a professional community of narrow specialists, approved by the expert council of the Ministry of Health of the Russian Federation, and updated the previous version published in 2016. The clinical guidelines are based on systematic reviews, meta-analyses and original articles, and scientific work on this issue in the Russian Federation and other countries. The purpose of this document is to provide clinicians with the most up-to-date, evidence-based guidelines for the CAH diagnosis and treatment

Publisher

Endocrinology Research Centre

Subject

Public Health, Environmental and Occupational Health,Nutrition and Dietetics,Endocrinology,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference179 articles.

1. Melnichenko GA, Troshina EA, Molashenko NV,et al. Russian Association of Endocrinologists clinical practice guidelinesfor diagnosis, treatment and preventive measures in congenital adrenalhyperplasia due to 21-hydroxylase deficiency patients in adulthood.Consilium Medicum. 2016;18(4):8-19. (In Russ.).

2. Kareva MA, Chugunov IS. Federal clinical practice guidelines onthe management of the patients presenting with congenital adrenalhyperplasia. Problems of Endocrinology. 2014;60(2):42-50. (In Russ.) doi: https://doi.org/10.14341/probl201460242-50

3. Speiser PW, Arlt W, Auchus RJ, et al. Congenital Adrenal Hyperplasia Dueto Steroid 21-Hydroxylase Deficiency: An Endocrine Society ClinicalPractice Guideline. J Clin Endocrinol Metab. 2018;103(11):4043-4088.doi: https://doi.org/10.1210/jc.2018-01865

4. Sazonova AI. Somaticheskii statusi metabolicheskie narusheniya u vzroslykh patsientov s razlichnymiformami VDKN [dissertation]. Moscow; 2013. (In Russ.).

5. Kareva MA. Vrozhdennaya disfunktsiya kory nadpochechnikov u detei:epidemiologiya, geneticheskaya osnova, personalizirovannyi podkhodk diagnostike i lecheniyu, monitoring somaticheskogo i reproduktivnogozdorov’ya [dissertation]. Moscow; 2019. (In Russ.).

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