Adrenogenital syndrome: molecular mechanisms of development

- Пішак, В.П. (orcid.org/0000-0002-0637-6936) and Ризничук, М.О. (2017) Adrenogenital syndrome: molecular mechanisms of development Міжнародний ендокринологічний журнал, 13 (2). pp. 100-208. ISSN 2224-0721

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Abstract

Summary. On the long multistage pathway of biosynthesis of steroid hormones from cholesterol to cortisol, testosterone and estradiol, due to mutations in genes, appeared the deficiency of steroidogenesis enzymes in the adrenal glands: cholesterol-desmolase, 3β-hydroxysteroiddehydrogenase, 17α-hydroxylase, 21-hydroxylase, and enzymes of steroidogenesis in the testis: 17,20-desmolasis, 17β-hydroxysteroldehydroreduktase and others, and occurred a complex of widespread congenital diseases of heterogeneous group with autosomal recessive type of inheritance – adrenogenital syndrome (AGS). Deficiency of any of these enzymes or transport proteins leads to partial or complete loss of their activity. Phenotypic manifestations of AGS are quite polymorphic: phenomenon of gipokortitsizm; violation of the nature and pace of sexual development; bilateral increasing of adrenal glands; hypercorticotropinemia, sensitive to dexamethasone; oligo- or amenorrhea; anovulatory infertility, miscarriage in early pregnancy. Pathogenetic component of these signs are congenital abuse of steroidogenesis caused by 11β-hydroxylase deficiency and symptoms of androgen excess. At the AGM are differentiated phenotype and nonclassical forms of steroidogenesis enzymes deficiency. In most cases, both types of diseases occur in persons of both sexes with different course of it – from mild to severe forms of the disease.

Item Type: Article
Keywords: сongenital adrenal hyperplasia, diagnosis, adrenal cortex, virilization
Subjects: Science and knowledge. Organization. Computer science. Information. Documentation. Librarianship. Institutions. Publications > 6 Applied Sciences. Medicine. Technology > 61 Medical sciences
Divisions: Institute of Psychology after N.Kostiuk > Common resources institute
Depositing User: чл.-кор. Василь Павлович Пішак
Date Deposited: 29 Aug 2017 20:03
Last Modified: 29 Aug 2017 20:03
URI: http://lib.iitta.gov.ua/id/eprint/707702

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