Results 91 to 100 of about 4,947 (206)

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

, 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., Falhammar, H., Frisén, L., Linden Hirschberg, A., Nordenskjöld, A., Nordenström, A., Norrby, C.   +6 more
core   +1 more source

The gut‐microbiota‐brain axis: Focus on gut steroids

Journal of Neuroendocrinology, Volume 37, Issue 7, July 2025.
Abstract There are over 1000 varieties of steroids that have been reported in nature, including the endogenous sex steroid hormones (i.e., progesterone, testosterone, and 17β‐estradiol) and corticosteroids which are mainly synthesized by gonads and adrenals, respectively.
Silvia Diviccaro, Silvia Giatti, Lucia Cioffi, Gabriela Chrostek, Roberto Cosimo Melcangi   +4 more
wiley   +1 more source

Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation

Heliyon
Objective: To explore the correlation between different CYP21A2 pathogenic gene mutations and clinical phenotypes in Congenital adrenal hyperplasia (CAH) patients.
Yanru Hou, Yian Li, Jiajia Ai, Li Tian
doaj   +1 more source

Hiperplasia Congénita da Suprarrenal por Deficiência de 21-Hidroxílase: Correlação Genótipo-Fenótipo

Acta Médica Portuguesa, 2015
Introdução: A hiperplasia congénita da suprarrenal por deficiência de 21-hidroxílase constitui uma das doenças hereditárias mais comuns. Resulta de diferentes mutações no gene CYP21A2 e, na maioria dos casos, a gravidade da doença correlaciona-se com a ...
Catarina Mendes, Inês Vaz Matos, Luís Ribeiro, Maria João Oliveira, Helena Cardoso, Teresa Borges   +5 more
doaj   +1 more source

Single‐Cell Atlas Reveals Tumorigenic Profiles and Immune Dynamics of Adrenal Incidentalomas

Advanced Science, Volume 12, Issue 22, June 12, 2025.
Single‐cell RNA sequencing reveals cellular heterogeneity in adrenal incidentalomas, identifying distinct tumor cell populations. Clusterin is recognized as a biomarker for adrenocortical tumors, correlating with established markers. MYCN‐positive clusters in pheochromocytomas indicated poorer survival.
Meng Wang, Guangmin Zheng, Xiaoyong Hu, Feng Tian, Tuo Li, Zheng Zhang, Kan Gong, Shiwei Chen, Lin Yuan, Yu Qi, Lin Li, Daofu Cheng, Liu Liu, Fuqiang Liu, Yujing Sun, Xiangdong Fang, Ruxing Zhao, Bing Liu, Chao Zhang   +18 more
wiley   +1 more source

[From gene to disease: adrenogenital syndrome and the CYP21A2 gene]. [PDF]

Nederlands tijdschrift voor geneeskunde, 2007
Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. In more than 90% of cases CAH is caused by CYP21 (21-hydroxylase) deficiency leading to impaired cortisol and aldosterone synthesis and an increase in ACTH secretion. This then leads to stimulation of the adrenal gland and overproduction of androgens with virilisation of ...
Claahsen-van der Grinten, H.L., Hoefsloot, L.H.   +1 more
openaire   +2 more sources

Effects of Oxidative Stress Gene Protein, Expression, and DNA Methylation on Multiple Sclerosis: A Multi‐Omics Mendelian Randomized Study

Brain and Behavior, Volume 15, Issue 6, June 2025.
Mendelian randomization (MR) and colocalization analysis were used to study the relationship between oxidative stress genes and multiple sclerosis by integrating multiple omics, and finally, two significant genes related to STAT3 and CR1 were obtained.
Yang Li, Yushi Wang, Shuning Wang, Hui Zhu   +3 more
wiley   +1 more source

О различиях в частотах аллелей полиморфизма -153 С/Т ММР-7 среди женщин с преэклампсией и контрольной группой [PDF]

, 2015
Изучение полиморфизма матриксной металлопротеиназы-7 (-153 C/T MMP-7) у женщин с преэклампсией и в контрольной ...
Должиков, А. А., Овчарова, В. С., Собянин, Ф. И.   +2 more
core  

The "backdoor pathway" of androgen synthesis in human male sexual development. [PDF]

, 2019
Mammalian sex determination (male versus female) is largely controlled by genes, whereas sex differentiation (development of reproductive structures) is largely controlled by hormones. Work in the 20th century indicated that female external anatomy was a
Auchus, Richard J, Miller, Walter L
core   +2 more sources

Adrenal Insufficiency Associated Cardiomyopathy, From Molecule to Clinic: A Comprehensive Review

Health Science Reports, Volume 8, Issue 5, May 2025.
ABSTRACT Background and Aim Adrenal insufficiency (AI), the lack of glucocorticoids (GCs) production or function with or without a lack of mineralocorticoids (MCs) and adrenal androgens, can result in uncommon but life‐threatening complications like shock, circulatory failure, syncope, arrhythmias, dilated cardiomyopathy (DCM), and congestive heart ...
Narges Bazgir, Afsaneh Soltani, Zahra Mohajer, Mohammad Amin Khazeei Tabari, Vahid Eslami   +4 more
wiley   +1 more source