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Cuban neonatal screening program for congenital adrenal hyperplasia: a reality. 2005–2014Programa cubano de pesquisa neonatal de la hiperplasia suprarrenal congénita: una realidad. 2005-2014
(Intituto Tecnológico de Santo Domingo (INTEC), 2021)
Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia
(Oxford University Press, 2021-07)
Context: The syndrome CAH-X is due to a contiguous gene deletion of CYP21A2 and TNXB resulting in TNXA/TNXB chimeras. Objective: To analyze TNXB gene status and to clinically evaluate the Ehlers-Danlos syndrome phenotype ...
Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia
(De Gruyter, 2014-11)
Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency need glucocorticoid (GC) therapy, which alters bone mineral metabolism. We analyze clinical and biochemical parameters and different ...
17alpha-hydroxylase deficiency : biochemical and molecular findings in two sisters and their family
(Springer, 2012-12)
Objective: To search for molecular changes in two Argentinian sisters with a clinical and biochemical diagnosis of 17alpha-hydroxylase deficiency. Subjects: Both patients had 46 XX karyotype, with sexual infantilism, primary ...
Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory proteinJOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISMJ CLIN ENDOCR METAB
(ISSUED FOR THE ENDOCRINE SOCIETY BY THE WILLIAMS & WILKINS CO, 2017)
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants
(Wiley-liss, Div John Wiley & Sons Inc, 2018-01)
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21-hydroxylation account for over 95% of patients with CAH. Clinically, the 21-hydroxylase ...
Genetic characterization of a large cohort of Argentine 21-hydroxylase deficiency
(Wiley Blackwell Publishing, Inc, 2020-07)
Context: 21-hydroxylase deficiency is the most common cause of Congenital Adrenal Hyperplasia. It presents as severe or classical forms—salt wasting and simple virilizing—and a mild or nonclassical (NC). Several studies ...
Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal
(Karger, 2017-09)
Background: Information sharing in chronic conditions such as disorders of/differences in sex development (DSD) is essential for a comprehensive understanding by parents and patients. We report on a qualitative analysis ...
A Novel Missense Mutation in the HSD3B2 Gene, Underlying Nonsalt-Wasting Congenital Adrenal Hyperplasia. New Insight Into the Structure-Function Relationships of 3β-Hydroxysteroid Dehidrogenase Type II
(Endocrine Society, 2015-01)
Context: 3βHSD2 is a bifunctional microsomal NAD+-dependent enzyme crucial for adrenal and gonad steroid biosynthesis, converting Δ5-steroids to Δ4-steroids. 3βHSD2 deficiency is a rare cause of congenital adrenal hyperplasia ...