Results 41 to 50 of about 423,582 (318)
BMC Surgery, 2017 Background Adrenocoricotrophic hormone (ACTH) – independent bilateral adrenocortical macronodular hyperplasia (AIMAH) is a rare cause of Cushing’s syndrome, and is characterized by bilateral adrenal hyperplasia.
Mao Tokumoto +11 more
doaj +1 more source
Phenotypically Male Congenital Adrenal Hyperplasia Patient with Huge Space-occupying Adrenal Masses: a Case Report and Literature Review [PDF]
Zhongguo quanke yixue, 2023 Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disease encompassing enzyme deficiencies in the process of adrenal steroidogenesis, which leads to adrenal cortex dysfunction.
RAO Yufeng, MENG Liheng, ZHOU Jia, LIANG Xinghuan, HUANG Zhenxing, QIN Yingfen
doaj +1 more source
Journal of Clinical Endocrinology and Metabolism, 2018 Background Individuals with congenital adrenal hyperplasia (CAH) require glucocorticoid therapy to replace cortisol and to control androgen excess. We sought to evaluate the effects of glucocorticoid therapy on cardiovascular and metabolic outcomes in ...
S. Tamhane +6 more
semanticscholar +1 more source
Sex assignment in conditions affecting sex development [PDF]
, 2017 The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
core +1 more source
novel insights into the genetics and pathophysiology of adrenocortical tumors [PDF]
, 2015 International audienceAdrenocortical tumors (ACTs) are typically unilateral and can be classified as benign adrenocortical adenomas (ACAs) or malignant adrenocortical cancers (ACCs).
Drougat, Ludivine +3 more
core +7 more sources
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
Frontiers in Endocrinology, 2019 The deficiency of 21-hydroxylase due to CYP21A2 pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to infertility and to milder symptoms, nevertheless important for affecting the patients' self ...
D. Pignatelli +5 more
semanticscholar +1 more source
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
Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment
Quality in SportIntroduction and Purpose: Congenital adrenal hyperplasia represents a group of genetic disorders characterized by improper adrenal steroidogenesis, resulting in deficiency or absence of cortisol and/or aldosterone, and varying degrees of disturbances in ...
Oskar Targoński +9 more
doaj +1 more source
Armc5 deletion causes developmental defects and compromises T-cell immune responses
Nature Communications, 2017 Mutations in ARMC5 are associated with risk of primary macronodular adrenal gland hyperplasia. Here the authors show that mice lacking Armc5 have adrenal gland hyperplasia and defective T-cell proliferation, differentiation, survival andin vivoT-cell ...
Yan Hu +11 more
doaj +1 more source
Assisted Reproduction in Congenital Adrenal Hyperplasia
Frontiers in Endocrinology, 2019 Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders characterized by defects of adrenal steroidogenesis due to mutations in one of the following enzymes: 21-hydroxylase (21OH), 11β-hydroxylase (11βOH), 17α-hydroxylase (17OH ...
A. Chatziaggelou +4 more
semanticscholar +1 more source