Results 31 to 40 of about 423,582 (318)

Extensive ARMC5 genetic variance in primary bilateral macronodular adrenal hyperplasia that started with exophthalmos: a case report

open access: yesJournal of Medical Case Reports, 2018
Background Primary bilateral macronodular adrenal hyperplasia is a rare cause of Cushing’s syndrome characterized by the presence of bilateral secretory adrenal nodules. Recent studies have shown that primary bilateral macronodular adrenal hyperplasia is
Ping Jin   +5 more
doaj   +1 more source

Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol

open access: yesHormone Research in Paediatrics, 2019
Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency (21OHD) has a worldwide incidence of 1 in 15–20,000. Affected individuals have adrenal insufficiency and androgen excess; the androgen excess begins during fetal life ...
W. Miller
semanticscholar   +1 more source

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency [PDF]

open access: yes, 2010
Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase.
Adachi   +59 more
core   +2 more sources

Increased Infection Risk in Addison’s Disease and Congenital Adrenal Hyperplasia

open access: yesbioRxiv, 2019
Context Mortality and infection-related hospital admissions are increased in patients with primary adrenal insufficiency (PAI). However, the risk of primary care-managed infections in patients with PAI is unknown.
A. Tresoldi   +8 more
semanticscholar   +1 more source

Growth Patterns in the First Three Years of Life in Children with Classical Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening and Treated with Low Doses of Hydrocortisone [PDF]

open access: yes, 2011
Background: Linear growth is the best clinical parameter for monitoring metabolic control in classical congenital adrenal hyperplasia (CAH). Objective: To analyze growth patterns in children with CAH diagnosed by newborn screening and treated with ...
Bonfig, W., Schmidt, H., Schwarz, H. P.
core   +1 more source

Diagnosis and management of primary bilateral macronodular adrenal hyperplasia

open access: yesEndocrine-Related Cancer, 2019
Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a highly heterogeneous entity. The incidental identification of an increasing number of cases has shifted its clinical expression from the rarely encountered severe forms, regarding both ...
D. Vassiliadi, S. Tsagarakis
semanticscholar   +1 more source

Congenital Adrenal Hyperplasia [PDF]

open access: yesF1000Research, 2015
Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years,
openaire   +3 more sources

Bilateral testicular adrenal rest tumors in a patient with nonclassical congenital adrenal hyperplasia

open access: yesIJU Case Reports, 2021
Introduction Solid testis tumors in post‐pubertal males usually represent germ cell malignancies; however, other uncommon or rare histologies must be considered.
Erica C Roberts   +5 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]

open access: yes, 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   +7 more
core   +3 more sources

Glucocorticoid Regimens in the Treatment of Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

open access: yesJournal of the Endocrine Society, 2019
Management of congenital adrenal hyperplasia (CAH) requires both glucocorticoid replacement and suppression of adrenal androgen synthesis. It is recommended that children with CAH be treated with hydrocortisone, but the appropriate glucocorticoid regimen
Emma Whittle, H. Falhammar
semanticscholar   +1 more source

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