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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 ...
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 ...
Nueva mutación heterocigota en el gen de la proteína regulatoria aguda de la esteroideogénesis (star) en un paciente 46,xy con hiperplasia adrenal congénita lipoideaNovel heterozygous mutation in the steroidogenic acute regulatory protein gene in a 46,XY patient with congenital lipoid adrenal hyperplasia
(Medicina (buenos Aires), 2013-03)
StAR forma parte del complejo multiproteico transduceosoma, encargado del transporte de colesterol y que facilita su entrada a la mitocondria. Mutaciones recesivas en el gen STAR causan formas clásicas y no clásicas de ...
Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects
(Karger, 2016-05)
Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare cases, 46,XX gonads may differentiate ...
What Does AMH Tell Us in Pediatric Disorders of Sex Development?
(Frontiers Media S.A., 2020-09-08)
Disorders of sex development (DSD) are conditions where genetic, gonadal and/or internal/external genital sex are discordant. In many cases, serum testosterone determination is insufficient for the differential diagnosis. ...