Adrenogenital syndrome: molecular mechanisms of development

- Пішак, В.П. (orcid.org/0000-0002-0637-6936) and Ризничук, М.О. (orcid.org/0000-0002-3632-2138) (2017) Adrenogenital syndrome: molecular mechanisms of development Міжнародний ендокринологічний журнал, 2 (13). ISSN 2307-1427

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Abstract

On the long multistage pathway of biosynthesis of steroid hormones from cholesterol to cortisol, testo- sterone and estradiol, due to mutations in genes, there is the deficiency of steroidogenesis enzymes in the adrenal glands: cholesterol desmolase, 3β-hydroxysteroid dehydrogenase, 17α-hydroxylase, 21-hydroxylase, and enzymes of steroidogenesis in the testis: 17,20-desmolasis, 17β-hydroxystyrol dehydroreductase and others, as well as 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 hypoadrenocorticism; violation of the nature and rates 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 is congenital disorder of steroidogenesis caused by 11β-hydroxylase deficiency and symptoms of androgen excess. In AGS, there are distinguished a phenotype and nonclassical forms of steroidogenesis enzyme deficiency. In most cases, both types of diseases occur in persons of both sexes with different course — from mild to severe forms of the disease.

Item Type:	Article
Keywords:	adrenogenital syndrome; 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:	06 Nov 2018 16:25
Last Modified:	01 Feb 2019 01:18
URI:	https://lib.iitta.gov.ua/id/eprint/712232

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