Zobrazeno 1 - 10
of 3 523
pro vyhledávání: '"21-Hydroxylase deficiency"'
Autor:
Xuejiao Cui, Ping Li
Publikováno v:
Reproductive Health, Vol 21, Iss 1, Pp 1-12 (2024)
Abstract Objective A single-center observational study to determine the clinical characteristics and therapeutic dose adjustments in women of reproductive age with infertility and non-classical 21-hydroxylase deficiency (NC-21OHD). Design A retrospec
Externí odkaz:
https://doaj.org/article/7edbd1325b9d4ad9872a6622f5222de7
Autor:
Irene Fylaktou, Anny Mertzanian, Ioanna Farakla, Alexandros Gryparis, Ioannis Anargyros Vasilakis, Maria Binou, Evangelia Charmandari, Christina Kanaka-Gantenbein, Amalia Sertedaki
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 10, Pp 10696-10713 (2024)
21-hydroxylase deficiency (21-OHD) represents the most common form of congenital adrenal hyperplasia (CAH) due to CYP21A2 gene pathogenic variants. Τhe aim of this study was the identification of CYP21A2 variants in 500 subjects of Greek origin with
Externí odkaz:
https://doaj.org/article/e59b3635a8214b3b8999d8e6b684b49e
Publikováno v:
BMC Endocrine Disorders, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background Congenital adrenal hyperplasia (CAH) encompassed a bunch of autosomal recessive disorders characterized by impaired cortisol levels due to an enzymatic deficiency in steroid synthesis. In adult male patients with CAH, a frequent c
Externí odkaz:
https://doaj.org/article/a84725f6d1614c8abcd77218685e3866
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background21-Hydroxylase deficiency (21-OHD) is caused by mutations in the CYP21A2 gene. Due to the complex structure and the high genetic heterogeneity of the CYP21A2 gene, genetic testing for 21-OHD is currently facing challenges. Moreover, there a
Externí odkaz:
https://doaj.org/article/1a9007a1b68c455dbbc1e3d6e2284ce2
Autor:
Paola Concolino
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 4832-4844 (2024)
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis and shows elevated ACTH concentrations, which in turn has downstream effects. The most common variant of CAH, 21-hydroxylase deficiency (21OH
Externí odkaz:
https://doaj.org/article/c2d185a944dd4bd1843e7117f41c232f
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 28, Iss 2, Pp 117-128 (2024)
Congenital adrenal hyperplasia (CAH) comprises a heterogeneous group of autosomal recessive disorders impairing adrenal steroidogenesis. Most cases are caused by mutations in the CYP21A2 gene resulting in 21-hydroxylase (21-OH) deficiency (21-OHD). T
Externí odkaz:
https://doaj.org/article/c687944936c74803b16032173c5a05e6
Akademický článek
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Autor:
Zuzanna Szczepaniak, Agata Konopka, Natalia Wdowiak, Karina Lissak, Małgorzata Komarów, Martyna Choinka, Dominika Karasińska, Jakub Kalisiak
Publikováno v:
Quality in Sport, Vol 22 (2024)
Introduction: Congenital adrenal hyperplasia (CAH) is a group of diseases in which genetic defects occur that disturb the synthesis of cortisol. The most common variant of CAH (95%-99%) is caused by 21-hydroxylase deficiency as a result of mutations
Externí odkaz:
https://doaj.org/article/692ebd1b42ff44c8bb153d73aa01946c
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionChildren and young adults with congenital adrenal hyperplasia (CAH) are at increased risk of obesity and insulin resistance. There is evidence that children with CAH have increased visceral adiposity, which has been linked to metabolic sy
Externí odkaz:
https://doaj.org/article/af0df9a9246c4ecaba70484368adc69d
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 29, Iss 1, Pp 54-59 (2024)
Purpose Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess. This study was performed to investigate the clinical utility of prenatal diagnosis of 21-
Externí odkaz:
https://doaj.org/article/03bfec24869347f9914d21cd6c3fad06