Results 101 to 110 of about 4,073 (218)

DIAGNOSIS OF ENDOCRINE DISEASE: Steroid Hormone Analysis in Diagnosis and Treatment of DSD Position Paper of EU COST Action BM 1303 "DSDnet". [PDF]

, 2017
Disorders or differences in sex development (DSD) comprise a heterogeneous group of conditions with an atypical sex development. For optimal diagnosis highly specialized laboratory analyses are required across European countries.
_ _, A Juul, A Kulle, A Saba, Ahmed, Eiden-Plach, G Schuler, Greaves, Greaves, Jones, Juniarto, Klein, Krone, M F Hartmann, Mendonca, Midgley, N Krone, Nguyen, O Hiort, P M Holterhus, Panteghini, Petri, R F Greaves, S A Wudy, Soeborg, Sturgeon, Walter, Wild, Wudy, Y B de Rijke   +29 more
core   +5 more sources

CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOS

Biomedicines
Aims: Pathogenic variants in the CYP21A2 gene are related to the classic and non-classic forms of congenital adrenal hyperplasia (CAH). However, the role of CAH carrier status in the clinical presentation of polycystic ovarian syndrome (PCOS) is still ...
Ralitsa Robeva, Silvia Andonova, Tihomir Todorov, Aylin Feyzullova, Atanaska Elenkova, Georgi Kirilov, Alexey Savov, Sabina Zacharieva, Albena Todorova   +8 more
doaj   +1 more source

Hiperplasia Congénita da Suprarrenal por Deficiência de 21-Hidroxílase: Correlação Genótipo-Fenótipo

Acta Médica Portuguesa, 2015
Introdução: A hiperplasia congénita da suprarrenal por deficiência de 21-hidroxílase constitui uma das doenças hereditárias mais comuns. Resulta de diferentes mutações no gene CYP21A2 e, na maioria dos casos, a gravidade da doença correlaciona-se com a ...
Catarina Mendes, Inês Vaz Matos, Luís Ribeiro, Maria João Oliveira, Helena Cardoso, Teresa Borges   +5 more
doaj   +1 more source

Sex assignment in conditions affecting sex development [PDF]

, 2017
The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
core   +1 more source

Increased cardiovascular and metabolic morbidity in patients with 21-hydroxylase deficiency : a Swedish population-based national cohort study [PDF]

, 2017
CONTEXT: Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. However, glucocorticoids may increase the risk of cardiovascular and metabolic morbidity.
Almqvist, Catarina, Falhammar, Henrik, Frisén, Louise, Hirschberg, Angelica L., Nordenskjöld, Agneta, Nordenström, Anna, Norrby, Christina   +6 more
core   +1 more source

Genetics of 21-OH Deficiency and Genotype–Phenotype Correlation: Experience of the Hellenic National Referral Center

Current Issues in Molecular Biology
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 a ...
Irene Fylaktou, Anny Mertzanian, Ioanna Farakla, Alexandros Gryparis, Ioannis Anargyros Vasilakis, Maria Binou, Evangelia Charmandari, Christina Kanaka-Gantenbein, Amalia Sertedaki   +8 more
doaj   +1 more source

Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche.

Adv Biomed Res, 2016
Background: Congenital adrenal hyperplasia (CAH) due to mutations in the gene encoding 21-hydroxilase is one of common disease with an autosomal recessive form. In this study, our aim is to detect the prevalence of eight common mutations in nonclassical congenital adrenal hyperplasia (NCAH ...
Kolahdouz M, Hashemipour M, Khanahmad H, Rabbani B, Salehi M, Rabbani A, Ansari A, Naseri MM.   +7 more
europepmc   +4 more sources

Differentiation of human embryonic stem cells and human induced pluripotent stem cells into steroid-producing cells. [PDF]

, 2012
Although there have been reports of the differentiation of mesenchymal stem cells and mouse embryonic stem (ES) cells into steroid-producing cells, the differentiation of human ES/induced pluripotent stem (iPS) cells into steroid-producing cells has not ...
Honda, Kyoko, Inuzuka, Megumi, Kanamoto, Naotetsu, Kojima, Katsutoshi, Nakao, Kazuwa, Sone, Masakatsu, Sonoyama, Takuhiro, Tamura, Naohisa, Taura, Daisuke   +8 more
core   +1 more source

Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy [PDF]

, 2010
An intronic single nucleotide polymorphism (SNP) in the CYP3A5 gene (CYP3A5*3; SNP rs776746) affects RNA splicing and enzymatic activity. The CYP3A5*3 frequency increased with distance from the equator and natural selection has been proposed to explain ...
Alonso, Belén, Corao, A.I. (Ana), Coto, Eliecer, Díaz, Marta, López, Carlos, Marín, Rafael, Ortega, Francisco, Ortiz, Alberto, Ruiz-Ortega, Marta, Tavira, Beatriz, Álvarez, Victoria   +10 more
core  

The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion. [PDF]

, 2017
Common genetic variants at the ARL15 locus are associated with plasma adiponectin, insulin and HDL cholesterol concentrations, obesity, and coronary atherosclerosis.
Alison Sleigh, Anna Stears, Claire Adams, Felicity Payne, Inês Barroso, Isabel Huang-Doran, Katherine Fawcett, Nuno Rocha, Robert K. Semple, Stephen O’Rahilly, Vladimir Saudek   +10 more
core   +3 more sources