Results 21 to 30 of about 119,945 (311)

Steroid 21-hydroxylase gene variants and late-life depression

BMC Research Notes, 2021
Objectives A feature of late-life depression is alterations of the stress hormone system. The CYP21A2 gene encodes for the steroid 21-hydroxylase enzyme which is required for the biosynthesis of mineralocorticoids and glucocorticoids, two main components
Marie-Laure Ancelin, Joanna Norton, Karen Ritchie, Isabelle Chaudieu, Joanne Ryan   +4 more
doaj   +1 more source

Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene [PDF]

, 2014
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism and accounts for 90–95% of CAH cases.
Bruque, Carlos David, Buzzalino, Noemí Delia, Ceballos, Nora Raquel, Dain, Liliana Beatriz, Gómez Acuña, Luciana Inés, Scaia, María Florencia, Stivel, M., Taboas, Melisa Ivana   +7 more
core   +3 more sources

Screening of endocrine organ-specific humoral autoimmunity in 47,XXY Klinefelter's syndrome reveals a significant increase in diabetes-specific immunoreactivity in comparison with healthy control men. [PDF]

, 2015
The aim of this study was to evaluate the frequency of humoral endocrine organ-specific autoimmunity in 47,XXY Klinefelter’s syndrome (KS) by investigating the autoantibody profile specific to type 1 diabetes (T1DM), Addison’s disease (AD), Hashimoto ...
ANZUINI, Antonella, GIANFRILLI, DANIELE, GRANATO, SIMONA, LENZI, Andrea, PANIMOLLE, FRANCESCA, RADICIONI, Antonio, Semeraro, A, TIBERTI, Claudio   +7 more
core   +1 more source

IS CONGENITAL ADRENAL HYPERPLASIA DUE TO 21- HYDROXYLASE DEFICIENCY DECEPTIVE DISEASE? MANAGEMENT AND DIFFERENTIATION OF SYNDROME IN ADULTS

Праці Наукового товариства імені Шевченка. Медичні науки, 2017
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase defi ciency is one of the most common autosomal recessive hereditary diseases. The lack of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone ...
Anna Nowak
doaj   +1 more source

Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals [PDF]

, 2018
Objective: Episodes of acute adrenal insufficiency (AI)/adrenal crises (AC) are a serious consequence of congenital adrenal hyperplasia (CAH). This study aimed to assess morbidity from acute illness in CAH and identify factors associated with use of IV ...
Allolio, Bornstein, El-Maouche, Falhammar, Falhammar, Falhammar, Fleming, Gidlof, Gleeson, Hahner, Hahner, Huynh, Ishii, Kampmeyer, Khalid, Leblicq, Maguire, Merke, Neumann, Reisch, Rushworth, Rushworth, Rushworth, Rushworth, Speiser, Swerdlow   +25 more
core   +2 more sources

Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients

Endocrine Connections, 2019
Congenital adrenal hyperplasia (CAH) due to CYP21A2 gene mutations is associated with a variety of clinical phenotypes (salt wasting, SW; simple virilizing, SV; nonclassical, NC) depending on residual 21-hydroxylase activity.
Stefan Riedl, Friedrich-Wilhelm Röhl, Walter Bonfig, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Markus Bettendorf, Felix Riepe, Gernot Kriegshäuser, Eckhard Schönau, Gertrud Even, Berthold Hauffa, Helmuth-Günther Dörr, Reinhard W Holl, Klaus Mohnike   +14 more
doaj   +1 more source

Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report

Journal of Nepal Medical Association, 2020
Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies of enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiency which can be classical or non-classical.
Deependra Mandal, Deepa Khanal, Rajan Phuyal, Uttara Adhikari   +3 more
doaj   +1 more source

Cardiovascular abnormalities and impaired exercise performance in adolescents with congenital adrenal hyperplasia [PDF]

, 2015
Context: Patients with classic Congenital Adrenal Hyperplasia (CAH) are treated with lifelong glucocorticoids (GCS). Cardiovascular (CV) and metabolic effects of such therapy in adolescents have never been quantified.
Alessio, Maria, Arcopinto, Michele, Capalbo, Donatella, Cittadini, Antonio, De Paulis, Amato, Improda, Nicola, Isidori, Andrea, Lenzi, Andrea, Marra, ALBERTO MARIA, Salerno, Mariacarolina, Salzano, Andrea   +10 more
core   +1 more source

Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2013
PurposeThe purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and genotype.MethodsThis was a retrospective study of the ...
Yangho Yoo, Mi Sun Chang, Jieun Lee, Sung Yoon Cho, Sung Won Park, Dong-Kyu Jin, Hyung-Doo Park   +6 more
doaj   +1 more source

21-Hydroxylase Genotyping in Australasian Patients with Congenital Adrenal Hyperplasia [PDF]

, 2009
Mutations in CYP21 (21-hydroxylase) lead to congenital adrenal hyperplasia (CAH). We genotyped 26 probands with CAH by PCR-sequencing the entire CYP21 gene. 25/26 had homozygous or compound heterozygous mutations.
Asanuma A, Bachega TA, Balsamo A, Bobba A, Carrera P, Christensen K, Cotton RG, Dracopoulou VM, Fitness J, Gozzi TG, Kawaguchi H, Koppens PF, Krawinkel U, Krone N, Lako M, Lee HH, Lee HH, Levine LS, Levo A, Lupski JR, Mornet E, New MI, Ohlsson G, Pang S, Smith GR, Speiser PW, Wedell A, Weintrob N, Weintrob N, Wilson RC, Wu S, Zeng X   +31 more
core   +1 more source