Results 81 to 90 of about 3,461 (195)

Mutations of the CYP21A2 gene: Association of p.V281L mutation with polycystic ovarian syndrome (PCOS): Mutacije v CYP21A2 genu: povezava p.V281L mutacije s sindromom policističnih jajčnikov (PCOS)

, 2021
Purpose: The CYP21A2 gene encodes the enzyme 21–hydroxilase, which is responsible for the production of steroids. These hormones are key mediators of sexual development and conception.
Kokalj-Vokač, Nadja, Zagradišnik, Boris, Stangler Herodež, Špela, Došen, Marko, Takač, Iztok, Fijavž, Lusien   +5 more
core   +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

The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China

Clinical, Cosmetic and Investigational Dermatology, 2021
Ting Yang,1,2 Wen-Juan Wu,1 Li-Ming Tian,3 Deng-Feng Zhang,4 Xiao-Yan Yang,1 Jue Qi,1 Ying Tu,1 Li He1 1Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, 650023, People’s Republic of China ...
Yang T, Wu WJ, Tian LM, Zhang DF, Yang XY, Qi J, Tu Y, He L   +7 more
doaj  

Supplementary Material for: HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications

, 2019
Background: The HIV drugs lopinavir and ritonavir have recently been reported to cause transient adrenal insufficiency in preterm newborns. We, therefore, considered HIV drugs as a cause of transiently elevated 17-hydroxyprogesterone (17OHP) levels in a ...
Brixius-Anderko S. (6891932), Bernhardt R. (6891935), Fingerhut R. (6891923), Flück C.E. (4152658), Malikova J. (6891917), Zingg T. (6891920), Sluka S. (6891926), McDougall J. (6891938), Grössl M. (6891929), Pandey A.V. (6891941)   +9 more
core   +1 more source

Germ cell and other tumors in individuals with differences in sex development

CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, Miguel Reyes‐Múgica   +1 more
wiley   +1 more source

Predicting Residual 21‐Hydroxylase Enzymatic Activity in Pediatric and Adult Congenital Adrenal Hyperplasia Patients: Towards Individualized Therapy

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 11, Page 1869-1881, November 2025.
ABSTRACT Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by impaired cortisol production and consequent elevated adrenocorticotropic hormone (ACTH): CAH patients often require lifelong hydrocortisone therapy. Disease severity reflects residual 21‐hydroxylase enzyme activity, crucial for cortisol synthesis.
Davide Bindellini, Robin Michelet, Yersultan Mirasbekov, Qizong Lao, Charles Sukin, Wilhelm Huisinga, Deborah P. Merke, Charlotte Kloft   +7 more
wiley   +1 more source

Effects of 8-Br-cAMP and forskolin on the expression of CYP17A1 and CYP21A2.

, 2014
H295R cells were treated with 8-Br-cAMP or forskolin for 48 h under growth conditions, and fixed with 4% paraformaldehyde. (A) Immunostaining for CYP17A1. Red staining shows the anti-CYP17A1 antibody and blue staining shows DAPI (cell nuclei).
Hiroko Fujii (647809), Hiroko Okinaga (595337), Yuji Tanaka (543596), Masayoshi Iizuka (647813), Mimi Tamamori-Adachi (199339), Kousuke Uchida (647810), Takao Susa (647811), Haruo Hagiwara (647812), Takashi Nakakura (482811), Tomoki Okazaki (282059)   +9 more
core   +1 more source

Rooibos Flavonoids Inhibit the Activity of Key Adrenal Steroidogenic Enzymes, Modulating Steroid Hormone Levels in H295R Cells

Molecules, 2014
Major rooibos flavonoids—dihydrochalcones, aspalathin and nothofagin, flavones—orientin and vitexin, and a flavonol, rutin, were investigated to determine their influence on the activity of adrenal steroidogenic enzymes, 3β-hydroxysteroid dehydrogenase ...
Lindie Schloms, Amanda C. Swart
doaj   +1 more source

A Transcriptome‐Wide Association Study Identifies Candidate Susceptibility Loci and Genes for Lung Cancer Risk

Cancer Medicine, Volume 14, Issue 20, October 2025.
A transcriptome‐wide association study identified 40 genes associated with the risk of lung cancer, leveraging gene expression and genotype data from the Genotype‐Tissue Expression (GTEx) project and summary statistics of a genome‐wide association study on lung cancer.
Tianying Zhao, Jiajun Shi, Yaohua Yang, Dan Zhou, Jie Ping, Shuai Xu, Lili Xu, Jie Wu, Xiao‐Ou Shu, Ran Tao, Bingshan Li, Wei Zheng, Jirong Long, Qiuyin Cai   +13 more
wiley   +1 more source

Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women

Clinical Endocrinology, Volume 103, Issue 4, Page 540-566, October 2025.
ABSTRACT Context Androgen excess is common in women and refers to clinical or biochemical evidence of elevated androgenic steroids such as testosterone. It is associated with underlying polycystic ovary syndrome in the majority of cases. However severe androgen excess is less common and may indicate the presence of underlying adrenal or ovarian ...
Yasir S. Elhassan, James M. Hawley, Leanne Cussen, Ali Abbara, Sophie A. Clarke, Punith Kempegowda, Rima K. Dhillon‐Smith, Puja Thadani, Maureen Busby, Lucy Owusu‐Darkwah, Rachel Marrington, W. Colin Duncan, Robert K. Semple, Richard Quinton, Michael W. O'Reilly   +14 more
wiley   +1 more source