Results 61 to 70 of about 54,890 (322)
Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol
Hormone 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
Congenital Adrenal Hyperplasia
Annals of Saudi Medicine, 1991 The incidence of congenital adrenal hyperplasia in Saudi Arabia and the frequency of the carrier rate are not well known. Both figures should be high, considering the commonness of first-degree consanguinity in this part of the world. We present 25 cases of congenital adrenal hyperplasia, most of them due to a defect of the 21 hydroxylase enzyme ...
Mohammed N.A. Khalil +3 more
openaire +3 more sources
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 +7 more
core +3 more sources
Psychiatric characterization of children with genetic causes of hyperandrogenism [PDF]
, 2010 Objective: Very little is known about the mental health status in children with genetic causes of hyperandrogenism. This study sought to characterize psychiatric morbidity in this group. Design/methods: Children (8-18 years) with the diagnosis of classic
Ernst, Monique +7 more
core +2 more sources
A link between solar events and congenital malformations: Is ionizing radiation enough to explain it? [PDF]
Journal of Geophysical Research: Space Physics 120.3, 1537-1542
(2015), 2015 Cosmic rays are known to cause biological effects directly and through ionizing radiation produced by their secondaries. These effects have been detected in airline crews and other specific cases where members of the population are exposed to above average secondary fluxes.
arxiv +1 more source
Endocrine, 2019 Purpose3β-hydroxysteroid dehydrogenase type 2 deficiency (3βHSD2D) is a very rare variant of congenital adrenal hyperplasia (CAH) causing less than 0.5% of all CAH.
Abdullah M Al Alawi +2 more
semanticscholar +1 more source
Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia [PDF]
, 1999 Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal cortex, with subsequent overproduction of adrenal androgens.
Barta, Csaba +8 more
core +1 more source
A discrete event system specification (DEVS)-based model of consanguinity [PDF]
Journal of theoretical biology, 285(1), 103-112 (2011), 2017 Consanguinity or inter-cousin marriage is a phenomenon quite prevalent in certain regions around the globe. Consanguineous parents have a higher risk of having offspring with congenital disorders. It is difficult to model large scale consanguineous parental populations because of disparate cultural issues unique to regions and cultures across the globe.
arxiv +1 more source
Increased Infection Risk in Addison’s Disease and Congenital Adrenal Hyperplasia
bioRxiv, 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
CONGENITAL ADRENAL CORTEX HYPERPLASIA IN A NEWBORN (CLINICAL CASE)
Неонатологія, хірургія та перинатальна медицина, 2019 Congenital adrenal cortex hyperplasia combines a group of monogenic diseases with an autosomal recessive fashion based on defects in enzymes or transport proteins involved in adrenal steroidogenesis.
N.M. Kretsu +3 more
doaj +1 more source