Results 41 to 50 of about 6,020 (257)

CYP21A2mutation update: Comprehensive analysis of databases and published genetic variants

Human Mutation, 2017
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 deficiency has been classified in a broad spectrum of clinical forms, ranging from severe or classical, to mild late onset or non ...
Leandro Simonetti, Carlos David Bruque, Cecilia Fernández, Belén Benavides‐Mori, Marisol Delea, Jorge E. Kolomenski, Lucía D. Espeche, Noemí Buzzalino, Alejandro D. Nadra, Liliana Daín   +9 more
openalex   +5 more sources

P455: Long-range PCR and nanopore sequencing method resolves F8, GBA, CYP21A2, SMN1, and TNXB variants using a single streamlined workflow [PDF]

Genetics in Medicine Open, 2023
Cody W. Edwards, Bradley C. Martin, Monica Roberts, Jon Kemppainen, Ryan Routsong, Bryan Killinger, Adrián Lara, Christopher Fraher, Gary P. Latham, B. D. Hall   +9 more
openalex   +2 more sources

Long-Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree. [PDF]

Mol Genet Genomic Med
Long‐read sequencing (LRS) based on the long‐rang PCR identified the genetic complexities such as the deletion chimeras and duplicated CYP21A2 in congenital adrenal hyperplasia, enabling the precise diagnosis for the family pedigree. ABSTRACT Background High sequence homology between CYP21A2 and CYP21A1P poses challenges to genetic diagnosis of ...
Chen X, Zhao J, Li D, Xi N, Yi D, Yan M, Yin Y, Wang X.   +7 more
europepmc   +2 more sources

Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry

Endocrine Connections, 2021
Objective: Treatment of classic congenital adrenal hyperplasia (CAH) is necessary to compensate for glucocorticoid/mineralocorticoid deficiencies and to suppress androgen excess.
Heike Hoyer-Kuhn, Angela Huebner, Anette Richter-Unruh, Markus Bettendorf, Tilman Rohrer, Klaus Kapelari, Stefan Riedl, Klaus Mohnike, Helmuth-Günther Dörr, Friedrich-Wilhelm Roehl, Katharina Fink, Reinhard W Holl, Joachim Woelfle   +12 more
doaj   +1 more source

Adrenal steroid hormone responses to exercise under thermal stress: Potential role for nonclassic congenital adrenal hyperplasia in heat illness susceptibility. [PDF]

Physiol Rep
Abstract We queried whether adrenal insufficiency attributable to non‐classic congenital adrenal hyperplasia (21 hydroxylase deficiency, 21OHD) might contribute to heat illness susceptibility. Patients referred to a specialist heat illness clinic (n = 2 with prior hyponatremia; n = 16 lacking documentary evidence) and controls (n = 16) underwent ...
Stacey MJ, House C, de Sa DR, Brett SJ, Boot C, Teggert A, Allsopp AJ, Woods DR.   +7 more
europepmc   +2 more sources

Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries

Clinical Endocrinology, Volume 98, Issue 1, Page 41-48, January 2023., 2023
Abstract Objective Patients with congenital adrenal hyperplasia (CAH) in developing countries have limited access to appropriate laboratory facilities for diagnosis and follow‐up. The aim of this study is to evaluate steroid measurement in hair as a diagnostic tool to identify and monitor CAH in these patients.
Selma Waaijers, Agustini Utari, Rick H. A. van der Doelen, Sultana M. H. Faradz, Renate Hensen‐Lodewijk, Andre J. Olthaar, Paul J. Geutjes, Fred C. Sweep, Hedi L. Claahsen‐van der Grinten, Antonius E. van Herwaarden   +9 more
wiley   +1 more source

Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants

JCRPE, 2021
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females ...
Tuğba Kontbay, İhsan Turan
doaj   +1 more source

Caracterización molecular de la nueva entidad clínica relacionada con la hiperplasia suprarrenal congénita, síndrome CAH-X en población española

Advances in Laboratory Medicine, 2023
La recombinación entre CYP21A2-TNXB y sus respectivos pseudogenes (CYP21A1P-TNXA) da lugar a quimeras responsables del síndrome CAH-X (SCAH-X). Los pacientes con este síndrome presentan manifestaciones clínicas de hiperplasia suprarrenal congénita (HSC ...
Martínez Figueras Laura, Muñoz Pacheco Rafael, García González Dolores, Arriba Domènech María, Ezquieta Zubicaray Begoña   +4 more
doaj   +1 more source

Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population

Advances in Laboratory Medicine, 2023
The chimeras causing the CAH-X syndrome (SCAH-X) result from recombination between CYP21A2-TNXB and their respective pseudogenes (CYP21A1P-TNXA). The clinical manifestations of this syndrome include congenital adrenal hyperplasia (CAH) and Ehlers–Danlos ...
Figueras Laura Martínez, Pacheco Rafael Muñoz, González Dolores García, Domènech María Arriba, Zubicaray Begoña Ezquieta   +4 more
doaj   +1 more source

A 4-hour Profile of 17-hydroxyprogesterone in Salt-wasting Congenital Adrenal Hyperplasia: Is the Serial Monitoring Strategy Worth the Effort?

JCRPE, 2022
INTRODUCTION: Objective: Since there is no gold standard laboratory variable for adjustment of treatment in congenital adrenal hyperplasia (CAH), the aim was to assess the use of a 4-hour profile of serum 17-hydroxyprogesterone (17-OHP) to determine the ...
Özge Besci, İbrahim Mert Erbaş, Tuncay Küme, Kübra Yüksek Acinikli, Ayhan Abacı, Ece Böber, Korcan Demir   +6 more
doaj   +1 more source