Results 61 to 70 of about 2,714 (169)

HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications [PDF]

Hormone Research in Paediatrics, 2019
<b><i>Background:</i></b> 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 neonatal screening test for congenital adrenal hyperplasia in ...
Malikova, Jana, Zingg, Tanja, Fingerhut, Ralph, Sluka, Susanna, Grössl, Michael, Brixius-Anderko, Simone, Bernhardt, Rita, McDougall, Jane, Pandey, Amit V, Flück, Christa E   +9 more
openaire   +4 more sources

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Synthesis of halogenated pregnanes, mechanistic probes of steroid hydroxylases CYP17A1 and CYP21A2 [PDF]

The Journal of Steroid Biochemistry and Molecular Biology, 2012
The human steroidogenic cytochromes P450 CYP17A1 (P450c17, 17α-hydroxylase/17,20-lyase) and CYP21A2 (P450c21, 21-hydroxylase) are required for the biosynthesis of androgens, glucocorticoids, and mineralocorticoids. Both enzymes hydroxylate progesterone at adjacent, distal carbon atoms and show limited tolerance for substrate modification.
Francis K, Yoshimoto, Melissa C, Desilets, Richard J, Auchus   +2 more
openaire   +2 more sources

Genetic Insights and Lifelong Management of Aldosterone Synthase Deficiency: A Case of Hyperreninemic Hypoaldosteronism

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Aldosterone synthase deficiency is a rare cause of neonatal salt‐wasting and failure to thrive. Routine newborn electrolyte screening after 5 days of life is vital for early detection and prevention of life‐threatening crises. Genetic confirmation enables targeted fludrocortisone therapy, ensuring favorable growth and developmental outcomes.
Mian Muhammad Hassan Ahmed, Rehmana Waris, Samra Batool, Rahmat Gul Omarzai, Abdur Rehman   +4 more
wiley   +1 more source

Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS Short title: CYP21A2 genotyping using MALDI-TOF MS

, 2023
Abstract Background Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) based on hormonal testing is successfully implemented in many countries. However, this method cannot detect non-classic CAH and has high false positive rates. Methods This study aimed to develop a novel MALDI-TOF MS assay that can identify common variants and
Xiaoshan Yin, Yiming Lin, Ting Zhang, Haixia Miao, Lingwei Hu, Zhenzhen Hu, Dou Zhou, Benqing Wu, Xinwen Huang   +8 more
openaire   +1 more source

Autoimmune Thyroid Disease and Female Fertility: Clinical Evidence on Ovarian Reserve, Infertility Treatment Outcomes, and Pathophysiology

Reproductive Medicine and Biology, Volume 25, Issue 1, January/December 2026.
Thyroid autoimmunity may exert a subtle influence on ovarian reserve through complex endocrine and immune mechanisms, with age‐specific variation. Although AMH alterations are observed, their clinical relevance for primary ovarian insufficiency, fertility, and treatment outcomes of assisted reproduction remains unclear, highlighting the need for ...
Akira Iwase, Yuko Hasegawa, Yoshikazu Kitahara, Seung Chik Jwa, Hiromitsu Shirasawa, Michio Kitajima, Yukiko Katagiri, Miyuki Harada, Kazuhiro Kawamura, Satoko Osuka   +9 more
wiley   +1 more source

Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene. [PDF]

PLoS ONE, 2013
The human steroid 21-hydroxylase gene (CYP21A2) participates in cortisol and aldosterone biosynthesis, and resides together with its paralogous (duplicated) pseudogene in a multiallelic copy number variation (CNV), called RCCX CNV.
Julianna Anna Szabó, Ágnes Szilágyi, Zoltán Doleschall, Attila Patócs, Henriette Farkas, Zoltán Prohászka, Kárioly Rácz, George Füst, Márton Doleschall   +8 more
doaj   +1 more source

Detection of mutations in theCYP21A2gene: genotype-phenotype correlation in Slovenian couples with conceiving problems [PDF]

Balkan Journal of Medical Genetics, 2015
AbstractThe objective of this study was to compare the CYP 21A2 genetic profiles of couples with unexplained fertility problems (UFP) with genetic profiles of healthy controls (HCs). Furthermore, we analyzed associations between mutations in theCYP21A2gene and various clinical and laboratory parameters.
Stangler Herodež, Špela, Fijavž, Lusien, Zagradišnik, Boris, Kokalj-Vokač, Nadja   +3 more
openaire   +4 more sources

Genome‐Wide Cross‐Trait Analysis Dissects the Shared Genetic Architecture Between Type 2 Diabetes Mellitus and Metabolic Dysfunction–Associated Steatotic Liver Disease

Human Mutation, Volume 2026, Issue 1, 2026.
The observational studies confirmed the high prevalence of metabolic dysfunction–associated steatotic liver disease (MASLD) in patients with Type 2 diabetes mellitus (T2DM), but whether this reflects a shared genetic etiology and exists underlying causal relationships remains unknown. Here, we utilized the largest scale cross‐trait analysis from genome‐
Zijun Zhu, Hailong Li, Xin Wang, Xinyu Chen, Liang Cheng, Priya Gusain   +5 more
wiley   +1 more source

A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia

Ожирение и метаболизм
Multiple endocrine neoplasia type 1 (MEN1) and congenital adrenal hyperplasia (CAH) are rare monogenic hereditary endocrinopathies with a prevalence of 1–9 cases per 100,000 and 9–15 cases per 100,000, respectively.
A. S. Bondarenko, E. O. Mamedova, Zh. E. Belaya, G. A. Melnichenko   +3 more
doaj   +1 more source