Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency [PDF]
, 2007 Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by defects in one of several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands.
Friães, A, Gonçalves, J, Moura, L
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CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica
Molecular Genetics and Metabolism Reports, 2021 Steroid 21-hydroxylase deficiency accounts for 95% of congenital adrenal hyperplasia (CAH) cases. Newborn screening has allowed for early detection of the disease, and currently, molecular analysis can identify the genotypes of these patients. Phenotype-genotype correlation has been well described in previous studies.
Mildred Jiménez +4 more
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SAT284 Is Stress Vulnerability In CAH Related To Epinephrine Deficiency And CYP21A2 Genotype?
Journal of the Endocrine Society, 2023 Disclosure: A. Nordenstrom: None. K. Ekbom: None. R. Said: None. A. Strandqvist: None. H. Lönnberg: None. M. Lindberg: None. N. Bertman: None. A.L. Hirschberg: None. H. Falhammar: None. A. Rickenlund: None. Introduction: Primary adrenal insufficiency due
A. Nordenstrom +9 more
semanticscholar +1 more source
SAT380 Clinical, Metabolic And Hormonal Profile In Women Carrying Cyp21a2 Mutations
Journal of the Endocrine Society, 2023 Disclosure: S. Livadas: None. D.G. Goulis: None. E. Belardinelli: None. E. Armeni: None. B. Solmi: None. S. veneti: None. I. Lambrinoudaki: None. C. Cecchetti: None. D.P. Macut: None. A. Gambineri: None.
S. Livadas +9 more
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A CYP21A2 based whole-cell system in Escherichia coli for the biotechnological production of premedrol [PDF]
, 2015 Additional file 4: Fig. S4. In vitro conversion of medrane with the redox systems AdR/Adx/CYP21A2 or arh1/Adx/CYP21A2 with either NADH or NADPH. 400 ÎźM Medrane was converted in a reconstituted in vitro assay with Adx based redox systems containing AdR ...
Bernd Janocha +4 more
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Data in Brief, 2017 This article presents the dataset regarding spectrum of mutations in 21-Hydroxylase deficient CAH patients as described in “The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort” (R. Khajuria, R. Walia, A.
Ragini Khajuria +3 more
doaj +1 more source
Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life [PDF]
, 2010 Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys.
Bonfig, W., Schwarz, H. P.
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Revista Pediátrica de Panamá, 2023 Introducción: La hiperplasia suprarrenal congénita se caracteriza por la alteración en la biosíntesis de los corticoides suprarrenales, conllevando presentaciones clínicas variables que van desde formas leves hasta formas potencialmente mortales.
Adriana Sarit Lambraño Arias +3 more
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CYP21A2 gene mutationsin the women with recurrent miscarriage
Journal of obstetrics and women's diseases, 2012 Miscarriage is one of the major problems of modern reproduction. Total frequency of micarrieges is estimated as 15–27 % of total pregnancies. Recurrent Miscarriage (RM) (three or more spontaneous abortions) is responsible for almost 20 % of total miscarrieges. The population frequency of RM fluctuates from 2 % to 5 %.
N. S. Osinovskaya +3 more
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Statistical analysis of the results of detection of frequent mutations in the CYP21A2 gene
Endocrine Surgery, 2023 .
E. A. Vetchinkina +2 more
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