Congenital adrenal hyperplasia

Congenital adrenal hyperplasia is a disease in which a gene mutation, which is inherited in an autosomal recessive manner, causes a disorder in the synthesis of enzymes that create glucocorticoids, mineralocorticoids, or sex steroids from adrenal cholesterol. The incidence of the classic form of the...

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Autores principales:	Miolski Jelena, Ješić Maja, Zdravković Vera
Formato:	article
Lenguaje:	EN SR
Publicado:	University of Belgrade, Medical Faculty 2021
Materias:	congenital adrenal hyperplasia 21 alpha-hydroxylase children Medicine R
Acceso en línea:	https://doaj.org/article/ce861e20c9974c0899e7ddb0ba335c15
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spelling	oai:doaj.org-article:ce861e20c9974c0899e7ddb0ba335c152021-12-05T21:26:45ZCongenital adrenal hyperplasia0369-15272466-552510.5937/mp72-31347https://doaj.org/article/ce861e20c9974c0899e7ddb0ba335c152021-01-01T00:00:00Zhttps://scindeks-clanci.ceon.rs/data/pdf/0369-1527/2021/0369-15272102048M.pdfhttps://doaj.org/toc/0369-1527https://doaj.org/toc/2466-5525Congenital adrenal hyperplasia is a disease in which a gene mutation, which is inherited in an autosomal recessive manner, causes a disorder in the synthesis of enzymes that create glucocorticoids, mineralocorticoids, or sex steroids from adrenal cholesterol. The incidence of the classic form of the disease ranges from 1:14000 to 1:18000 births. In the majority of cases, the disease is caused by mutations in the CYP21A2 gene that participates in the synthesis of the 21 Alpha-hydroxylase. Due to the lack of enzymes, the synthesis of cortisol is blocked with the accumulation of sex hormones. The classic form of the disease, or a simple virilizing form in which patients lose salt, is diagnosed in the infant period. In the non-classical or mild form of the disease, with late-onset, patients may be asymptomatic or with a milder form of virilization postnatally. The diagnosis is made based on 17-hydroxyprogesterone levels, in order to determine the deficiency of the 21 Alpha-hydroxylase enzyme. Common complications of the disease are adrenal crisis, hypoglycemia, infertility, and premature entry into puberty. Prenatal therapy is referred to as experimental treatment, while the basis of care is hydrocortisone replacement. In severe forms of the disease, patients are unable to produce enough cortisol in response to stress from gastroenteritis, surgery, trauma, or fever, requiring higher doses of hydrocortisone. In certain cases of genital uncertainty, surgical treatment is necessary. A multidisciplinary team of experts is necessary for adequate surveillance of the disease, in both childhood and adulthood.Miolski JelenaJešić MajaZdravković VeraUniversity of Belgrade, Medical Facultyarticlecongenital adrenal hyperplasia21 alpha-hydroxylasechildrenMedicineRENSRMedicinski Podmladak, Vol 72, Iss 2, Pp 48-53 (2021)
institution	DOAJ
collection	DOAJ
language	EN SR
topic	congenital adrenal hyperplasia 21 alpha-hydroxylase children Medicine R
spellingShingle	congenital adrenal hyperplasia 21 alpha-hydroxylase children Medicine R Miolski Jelena Ješić Maja Zdravković Vera Congenital adrenal hyperplasia
description	Congenital adrenal hyperplasia is a disease in which a gene mutation, which is inherited in an autosomal recessive manner, causes a disorder in the synthesis of enzymes that create glucocorticoids, mineralocorticoids, or sex steroids from adrenal cholesterol. The incidence of the classic form of the disease ranges from 1:14000 to 1:18000 births. In the majority of cases, the disease is caused by mutations in the CYP21A2 gene that participates in the synthesis of the 21 Alpha-hydroxylase. Due to the lack of enzymes, the synthesis of cortisol is blocked with the accumulation of sex hormones. The classic form of the disease, or a simple virilizing form in which patients lose salt, is diagnosed in the infant period. In the non-classical or mild form of the disease, with late-onset, patients may be asymptomatic or with a milder form of virilization postnatally. The diagnosis is made based on 17-hydroxyprogesterone levels, in order to determine the deficiency of the 21 Alpha-hydroxylase enzyme. Common complications of the disease are adrenal crisis, hypoglycemia, infertility, and premature entry into puberty. Prenatal therapy is referred to as experimental treatment, while the basis of care is hydrocortisone replacement. In severe forms of the disease, patients are unable to produce enough cortisol in response to stress from gastroenteritis, surgery, trauma, or fever, requiring higher doses of hydrocortisone. In certain cases of genital uncertainty, surgical treatment is necessary. A multidisciplinary team of experts is necessary for adequate surveillance of the disease, in both childhood and adulthood.
format	article
author	Miolski Jelena Ješić Maja Zdravković Vera
author_facet	Miolski Jelena Ješić Maja Zdravković Vera
author_sort	Miolski Jelena
title	Congenital adrenal hyperplasia
title_short	Congenital adrenal hyperplasia
title_full	Congenital adrenal hyperplasia
title_fullStr	Congenital adrenal hyperplasia
title_full_unstemmed	Congenital adrenal hyperplasia
title_sort	congenital adrenal hyperplasia
publisher	University of Belgrade, Medical Faculty
publishDate	2021
url	https://doaj.org/article/ce861e20c9974c0899e7ddb0ba335c15
work_keys_str_mv	AT miolskijelena congenitaladrenalhyperplasia AT jesicmaja congenitaladrenalhyperplasia AT zdravkovicvera congenitaladrenalhyperplasia
_version_	1718371032291606528

Congenital adrenal hyperplasia

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