Results 31 to 40 of about 20,605 (223)

Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency

JCRPE
Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11-beta-hydroxylase deficiency (11β-OHD), 3-beta ...
Mehmet İsakoca, Şenay Erdeve, Semra Çetinkaya   +2 more
doaj   +1 more source

Direct molecular diagnosis of CYP21A2 point mutations in Macedonian and Serbian patients with 21-hydroxylase deficiency [PDF]

Journal of Medical Biochemistry, 2015
Background: Steroid 21-hydroxylase deficiency is present in 90-95% of all cases with congenital adrenal hyperplasia (CAH), an autosomal recessive disorder.
Anastasovska Violeta, Milenković Tatjana, Kocova Mirjana   +2 more
doaj  

Autoantibodies against Cytochrome P450 Side-Chain Cleavage Enzyme in Dogs (Canis lupus familiaris) Affected with Hypoadrenocorticism (Addison's Disease). [PDF]

PLoS ONE, 2015
Canine hypoadrenocorticism likely arises from immune-mediated destruction of adrenocortical tissue, leading to glucocorticoid and mineralocorticoid deficiency.
Alisdair M Boag, Michael R Christie, Kerry A McLaughlin, Harriet M Syme, Peter Graham, Brian Catchpole   +5 more
doaj   +1 more source

Multi‐tissue Metabolic GWAS and Drought‐Responsive Multi‐omics Reveal the Genetic Basis of the Quinoa Metabolome

Advanced Science, EarlyView.
A multi‐omics framework combining multitissue genome‐wide association studies, metabolomics, transcriptomics, proteomics, and functional validation uncovers the genetic basis of specialized metabolism in quinoa. The study identifies hundreds of metabolite‐associated loci, prioritizes candidate genes for saponin, betalain, and flavonoid biosynthesis ...
Julia von Steimker, Elodie L. Rey, Clara Stanschewski, Regina Wendenburg, Annabella Klemmer, Markéta Macho, Venkatesh P. Thirumalaikumar, Noha O. Saber, Aleksandra Skirycz, Alisdair R. Fernie, Mark Tester, Saleh Alseekh   +11 more
wiley   +1 more source

Integration of Adjunctive Therapy for Congenital Adrenal Hyperplasia

Children
CAH represents a prototypical enzyme deficiency disorder, most commonly affecting steroid 21-hydroxylase, in which the critical adrenal pathway from cholesterol to cortisol is blocked [...]
Phyllis W. Speiser
doaj   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

The value of serum levels of dehydroepiandrosterone sulfate as a screening test for late-onset congenital adrenal hyperplasia [PDF]

Einstein (São Paulo), 2006
Objective: To evaluate the use of serum level of dehydroepiandrosteronesulfate as a screening test for late-onset congenital adrenal hyperplasia.Methods: Fourteen hirsute women with elevated serum levels ofdehydroepiandrosterone sulfate, 17 hirsute women
Marcos Yorghi Khoury, Edmund Chada Baracat, Dolores Perovano Pardini, Rita de Cássia Castro, Odilon Victor Porto Denardin, Geraldo Rodrigues de Lima   +5 more
doaj  

CONGENITAL ADRENAL HYPERPLASIA (CAH): PRESENTATION WITH AMBIGUOUS GENITALIA S

Pakistan Armed Forces Medical Journal, 2010
Congenital adrenal hyperplasia (CAH) is a disorder of steroid genesis due to deficiency of enzymatic activities necessary for its synthesis. It is a recessively inherited disorder and has an average incidence of 1:5000, the most common of these is 21 ...
Capt Syed Khawar Ali, Rizwan Hashim, Farooq Ahmad Khan, Salman Ali   +3 more
doaj   +2 more sources

Interaction of the Gut Microbiota and the Enteric Nervous System: Implications in Gastrointestinal Disorders Associated With Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction, restricted interests, and repetitive behaviors. In addition to these core behavioral symptoms, gastrointestinal (GI) disorders are frequently reported, ranging from severe constipation to diarrhea.
Baptiste Ganachaud, María José Mendoza‐León, Justine Marchix, Alonso Fernandez Tello, Catherine Le Berre Scoul, Ma Cecilia Opazo, Michel Neunlist, Claudia A. Riedel, Martial Caillaud, Hélène Boudin   +9 more
wiley   +1 more source

Combining phenotypic, physiological, and multi‐omics studies to provide new insights on the role of 2,4‐epibrassinolide in regulation of seed shattering in Elymus sibiricus L.

Grassland Research, EarlyView.
Abstract Background Seed shattering limits the production of Elymus sibiricus L., and application of exogenous brassinosteroid significantly alleviates plant organ abscission. Methods To explore the potential regulatory network of brassinosteroid on seed shattering, the abscission zone of E. sibiricus cv. Lanyu No.
Huanhuan Lu, Yiyang Wan, Liuban Tang, Yongsen Qiu, Yancui Zhao, Yuying Zheng, Wengang Xie   +6 more
wiley   +1 more source