Results 91 to 100 of about 7,344,533 (183)

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

A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.

, 2012
Background Congenital adrenal hyperplasia is mainly caused by the deficiency of the 21-hydroxylase enzyme coded by the CYP21A2 gene. However, some alleles in the nonclassical form (NC-CAH) remain without identified mutations, suggesting the involvement ...
Conti, V, Cicognani, A, MENABO', SOARA, CONTI, VERONICA, Baldazzi, L, PIRAZZOLI, PIERO, Baldazzi L, Barbaro, M,, Menabo, S, Balsamo, A, Wedell A, BALSAMO, ANTONIO, CICOGNANI, ALESSANDRO, Barbaro M, Nicoletti, A, NICOLETTI, ANNALISA, Pirazzoli, P, Wedell, A,   +17 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

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

Genetic defects of the CYP21A2 gene in girls with premature adrenarche

, 2015
Objectives To seek evidence on the prevalence of CYP21A2 genetic defects and consequences in girls with premature adrenarche (PA).<p></p> Methods The study included 59 girls diagnosed with PA.
Phedonos, A.A.P., Kyriakou, A., Skordis, N., Phylactou, L. A., Toumba, M., Shammas, C., Neocleous, V.   +6 more
core   +1 more source

Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein

, 2006
OBJECTIVE: A severely virilized 46, XX newborn girl was referred to our center for evaluation and treatment of congenital adrenal hyperplasia (CAH) because of highly elevated 17alpha-hydroxyprogesterone levels at newborn screening; biochemical tests ...
Flück, Christa E., Janner, Marco, Pandey, Amit V., Mullis, Primus E.   +3 more
core   +1 more source

Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients

BMC Endocrine Disorders, 2011
Background Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2).
Jabbar Abdul, ul Haq Naeem, Raza Jamal, Aban Muniba, Khan Aysha H, Moatter Tariq   +5 more
doaj   +1 more source

Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report

Gynecological Endocrinology
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders related to adrenal steroid biosynthesis, and mainly caused by mutations in the CYP21A2 gene encoding 21-hydroxylase. Adrenal tumors are common in CAH, but functional adrenal
Qin Yan, Huancheng Su, Xuan Jing, Sufen Li, Xujiao Ji, Zhiping Zhang, Yanni Wang, Xia Huang, Tingting Xue, Xueqing Wu, Xiangrong Cui   +10 more
doaj   +1 more source

Vitamin D-mediated regulation of CYP21A2 transcription – a novel mechanism for vitamin D action

, 2012
Background1α,25-Dihydroxyvitamin D3 has recently been reported to decrease expression and activity of CYP21A2. In this paper, we have studied the mechanisms for the 1α,25-dihydroxyvitamin D3-mediated effect on CYP21A2 transcriptional rate.MethodsWe have ...
Lundqvist, Johan,, Wikvall, Kjell,, Norlin, Maria,   +2 more
core   +1 more source

p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients

, 2012
More than 90\% of all cases of congenital adrenal hyperplasia (CAH) result from steroid 21-hydroxylase gene (CYP21A2) mutations. The CYP21A2 gene is located in the human leukocyte antigen (HLA) class III region on the short arm of chromosome 6p21.3 ...
Zuppi, Cecilia, Concolino, Paola, Capoluongo, Ettore Domenico   +2 more
core   +1 more source