Results 71 to 80 of about 32,087 (214)

Brain Differences in the Prefrontal Cortex, Amygdala, and Hippocampus in Youth with Congenital Adrenal Hyperplasia [PDF]

open access: yes, 2020
Context: Classical Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency results in hormone imbalances present both prenatally and postnatally that may impact the developing brain.
Azad, Anisa   +5 more
core  

Congenital adrenal hyperplasia in the adult women: management of old and new challenges [PDF]

open access: yes, 2014
Due to major improvements in the management and therapy of patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (21OHD) along childhood and adolescence, affected women are able to reach adulthood.
Costa-Barbosa, Flávia A.   +2 more
core   +3 more sources

Abcc1 deficiency protects from corticosterone but not cortisol‐induced adiposity and insulin resistance in a sex‐specific manner

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend A mouse model of exogenous glucocorticoid (GC) treatment was used to determine (1) if corticosterone induced the same metabolic dysregulation as cortisol, and (2) whether these differences were mediated by the corticosterone‐specific transmembrane exporter Abcc1.
Mhairi A. Paul   +9 more
wiley   +1 more source

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

open access: yesCell Reports, 2018
Summary: Adrenal insufficiency is managed by hormone replacement therapy, which is far from optimal; the ability to generate functional steroidogenic cells would offer a unique opportunity for a curative approach to restoring the complex feedback ...
Gerard Ruiz-Babot   +18 more
doaj   +1 more source

Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]

open access: yes, 2017
Context: Reports on mortality in patients with congenital adrenal hyperplasia (CAH) are lacking. Objective: To study mortality and causes of death in CAH.
Almqvist, C.   +6 more
core   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Case report: Coexistence of Jacobs syndrome, congenital adrenal hyperplasia, and ambiguous genitalia in a male infant

open access: yesClinical Case Reports, 2023
Key Clinical Message Jacobs syndrome and congenital adrenal hyperplasia are separate entities but share common clinical features such as ambiguous genitalia.
Qaisar Ali Khan   +9 more
doaj   +1 more source

A boy or a girl? : Parental, family and whanau information needs when a child is born with an intersex/DSD condition : a thesis presented in fulfilment of the requirements for the degree of MPHIL in Nursing at Massey University, Auckland, New Zealand [PDF]

open access: yes, 2008
Is it a girl or a boy? This is a question that new parents assume will be answered at the birth, or even in the months leading up to the birth of their baby.
McCarthy, Gabrielle Leigh
core  

Incentive processing in Congenital Adrenal Hyperplasia (CAH): a reward-based antisaccade study [PDF]

open access: yes, 2013
Little is known about how steroid hormones contribute to the beneficial effect of incentives on cognitive control during adolescent development. In this study, 27 adolescents with Congenital Adrenal Hyperplasia (CAH, mean age 15.6 years, 12 female), a ...
Carlisi, Christina   +8 more
core   +2 more sources

Comprehensive Quantitative Urinary Steroid Profiling of 29 Steroids Using Liquid Chromatography‐Tandem Mass Spectrometry

open access: yesAnalytical Science Advances, Volume 7, Issue 1, June 2026.
ABSTRACT Steroids are critical for numerous physiological processes; disruption in their metabolism is associated with numerous endocrine disorders. Steroid quantification is essential to improve the understanding and diagnosis of these pathologies. Historically, urinary steroid profiling has been performed using low‐throughput gas chromatography mass ...
Joshua T. Bain   +4 more
wiley   +1 more source

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