Results 31 to 40 of about 4,947 (206)

C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism

BMC Medical Genetics, 2008
Background Research indicates that the etiology of autism has a strong genetic component, yet so far the search for genes that contribute to the disorder, including several whole genome scans, has led to few consistent findings.
Odell J Dennis, Odell Daniel W, Sweeten Thayne L, Torres Anthony R   +3 more
doaj   +1 more source

Implications of CYP21A2 gene duplications in carrier screening and prenatal diagnosis of congenital adrenal hyperplasia due to 21 Hydroxylase deficiency

Indian Pediatrics Case Reports, 2022
Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that presents as salt wasting or simple virilization (SV). It is due to biallelic mutations in the CYP21A2 gene that encodes the 21-hydroxylase enzyme.
Sudhisha Dubey, Renu Saxena, Ratna Dua Puri, Ishwar Chander Verma   +3 more
doaj   +1 more source

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

Frontiers in Endocrinology, 2023
ObjectiveThe study aimed to identify the pathogenic status of p.Gln319Ter (NM_000500.7: c.955C>T) variant when inherited in a single CYP21A2 gene (bimodular RCCX haplotype) and to discriminate between a non-causing congenital adrenal hyperplasia (CAH)
Pavlos Fanis, Nicos Skordis, Nicos Skordis, Nicos Skordis, Meropi Toumba, Meropi Toumba, Michalis Picolos, George A. Tanteles, Vassos Neocleous, Leonidas A. Phylactou   +9 more
doaj   +1 more source

Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia : epidemiological studies in a nonbiased national cohort in Sweden [PDF]

, 2014
Context: Congenital adrenal hyperplasia (CAH), CYP21A2 deficiency, results in cortisol and aldosterone deficiency and increased production of androgens, with a good genotype phenotype correlation.
Falhammar, Henrik, Frisén, Louise, Hirschberg, Angelica, Lichtenstein, Paul, Nordenskjöld, Agneta, Nordenström, Anna, Norrby, Christina, Strandqvist, Anna, Wedell, Anna   +8 more
core   +1 more source

HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications [PDF]

Hormone Research in Paediatrics, 2019
<b><i>Background:</i></b> The HIV drugs lopinavir and ritonavir have recently been reported to cause transient adrenal insufficiency in preterm newborns. We, therefore, considered HIV drugs as a cause of transiently elevated 17-hydroxyprogesterone (17OHP) levels in a neonatal screening test for congenital adrenal hyperplasia in ...
Malikova, Jana, Zingg, Tanja, Fingerhut, Ralph, Sluka, Susanna, Grössl, Michael, Brixius-Anderko, Simone, Bernhardt, Rita, McDougall, Jane, Pandey, Amit V, Flück, Christa E   +9 more
openaire   +4 more sources

An oncocytic adrenal tumour in a patient with Birt‐Hogg‐Dubé syndrome [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/106917/1/cen12292 ...
Caoili, Elaine M., Else, Tobias, Everett, Jessica N., Giordano, Thomas J., Gruber, Stephen B., Hammer, Gary D., Long, Jessica M., Raymond, Victoria M., Stoffel, Elena M.   +8 more
core   +1 more source

p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche

International Journal of Endocrinology, 2020
Premature pubarche (PP) is the appearance of sexual hair in children before puberty. The PP phenotype may attribute to nonclassic congenital adrenal hyperplasia (NC-CAH).
Mahdieh Soveizi, Nejat Mahdieh, Aria Setoodeh, Fatemeh Sayarifard, Farzaneh Abbasi, Himangshu S. Bose, Bahareh Rabbani, Ali Rabbani   +7 more
doaj   +1 more source

Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia

Archives of Endocrinology and Metabolism, 2022
Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non ...
Rita Santos Silva, Berta Carvalho, Jorge Pedro, Cíntia Castro-Correia, Davide Carvalho, Filipa Carvalho, Manuel Fontoura   +6 more
doaj   +1 more source

Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children. [PDF]

, 2015
Adrenal insufficiency is a rare, but potentially fatal medical condition. In children, the cause is most commonly congenital and in recent years a growing number of causative gene mutations have been identified resulting in a myriad of syndromes that ...
al Kandari, Altmann, Arlt, Ben Charfeddine, Chan, Charmandari, Choi, Clark, Clark, Committee on Bioethics, Committee on Genetics, The American College of Medical Genetics and, Genomics Social, Ethical, Legal Issues Committee, Cooper, El-Khairi, Fang, Fromer, Gilissen, Helmberg, Hiort, Hughes, Hughes, Husebye, Jarvik, Joehrer, Lam, Lambert, Lee, Li, Lin, Meimaridou, Meimaridou, Merce Fernandez-Balsells, Metherell, Meynert, Miki, Miller, Mui, Ng, Ng, Ng, Novoselova, O’Rawe, Penhoat, Perry, Prasad, Rios, Robertson, Speiser, Sulonen, Tee, Thusberg, Wang, Wang   +50 more
core   +4 more sources

A capillary electrophoresis-based assay for carrier screening of the hotspot mutations in the CYP21A2 gene

Heliyon
Molecular genetic analysis of the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene is challenging owing to the highly homologous with its pseudogene. A reliable approach for the large-scale population screening of CYP21A2 is required.
Juan Tan, Shuping Jin, Linxiang Huang, Binbin Shao, Yan Wang, Yuguo Wang, Jingjing Zhang, Min Su, Jianxin Tan, Qing Cheng, Zhengfeng Xu   +10 more
doaj   +1 more source