Results 71 to 80 of about 20,605 (223)

Obesity in Classic Congenital Adrenal Hyperplasia: Mechanisms, Complications and Management

Clinical Endocrinology, Volume 105, Issue 3, Page 271-284, September 2026.
ABSTRACT Classic congenital adrenal hyperplasia (CCAH) is an autosomal recessive genetic disorder primarily caused by 21‐hydroxylase deficiency. Although the survival rate of patients has significantly improved with glucocorticoid replacement therapy, long‐term use of supraphysiological doses and multiple factors inherent to the disease itself have led
Jialin Mu, Yue Li, Meng Sun, Yulin Li, Panpan Li, Hui Zou   +5 more
wiley   +1 more source

A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods

Journal of Biomedical Science, 2009
Background Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in CYP21A2 gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and ...
Varma R Raveendra, Saravanan Chinnaraj, Anwaruddin Mohammad, Idicula-Thomas Susan, Dubey Sudhisha, Maitra Anurupa   +5 more
doaj   +1 more source

Interpretation of Steroid Biomarkers in 21-Hydroxylase Deficiency and Their Use in Disease Management [PDF]

, 2023
Kyriakie Sarafoglou, Deborah P. Merke, Nicole Reisch, Hedi L. Claahsen‐van der Grinten, Henrik Falhammar, Richard J. Auchus   +5 more
openalex   +1 more source

Proteomic Differentiation of Colorectal Cancer From Normal Tissue via Ex Vivo E‐Biopsy: A Novel Approach to Molecular Sampling for Diagnostic Precision

Cancer Medicine, Volume 15, Issue 8, August 2026.
ABSTRACT Colorectal cancer (CRC) is one of the most common malignancies worldwide. Early and accurate diagnosis remains a clinical priority, yet current biopsy techniques are invasive, spatially limited, and may not capture the molecular heterogeneity of tumors.
Gintautas Saulis, Edward Vitkin, Rita Saule, Julia Wise, Antanas Gulbinas, Žilvinas Dambrauskas, Sandra Ivanauskienė, Justas Žilinskas, Lina Poskiene, Alexander Golberg   +9 more
wiley   +1 more source

Molecular Ontology Predicts Output Connections From the Nucleus of the Solitary Tract

Journal of Comparative Neurology, Volume 534, Issue 8, August 2026.
The nucleus of the solitary tract (NTS) integrates visceral inputs to coordinate appetite and digestion, breathing, and cardiorespiratory reflexes. Using cell‐type‐specific tracing, we show that excitatory Lmx1b neurons project broadly to brainstem and forebrain targets, whereas inhibitory output remains largely brainstem‐restricted. Catecholaminergic (
Silvia Gasparini, Haidong Zhu, Ana Sofia Peraza Munuzuri, Mya L. Leuang, Frederico S. Fazan, Joel C. Geerling   +5 more
wiley   +1 more source

Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency [PDF]

, 2022
Nithiphut Tantirukdham, Taninee Sahakitrungruang, Ratikorn Chaisiwamongkol, Monnat Pongpanich, Chalurmpon Srichomthong, Adjima Assawapitaksakul, Aayalida Buasong, Siraprapa Tongkobpetch, Patra Yeetong, Vorasuk Shotelersuk   +9 more
openalex   +1 more source

Evaluation of Potential Hormonal Activities of Ashwagandha (Withania somnifera)

Phytotherapy Research, Volume 40, Issue 8, Page 4880-4897, August 2026.
ABSTRACT Ashwagandha is a widely used herb in traditional medicine systems, particularly Ayurveda. Despite its extensive tradition, growing concerns regarding its potential endocrinological effects have prompted scientific scrutiny. This review systematically evaluates the current preclinical, clinical, and case study evidence concerning AS's effects ...
Günter Vollmer, Thomas Brendler
wiley   +1 more source

Steroidogenic compensation and lipid deficiency with enhanced NAD+ salvage in small‐for‐gestational‐age placenta

The FEBS Journal, Volume 293, Issue 15, Page 4554-4577, August 2026.
Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo, Lorenza Driul, Vanessa Tolotto, Eros Di Giorgio, Luigi E. Xodo   +4 more
wiley   +1 more source

Assay of steroids by liquid chromatography–tandem mass spectrometry in monitoring 21-hydroxylase deficiency

Endocrine Connections, 2018
Immunoassays of steroid hormones are still used in the diagnosis and monitoring of patients with congenital adrenal hyperplasia. However, cross-reactivity between steroids can give rise to falsely elevated steroid levels.
Sandra R Dahl, Ingrid Nermoen, Ingeborg Brønstad, Eystein S Husebye, Kristian Løvås, Per M Thorsby   +5 more
doaj   +1 more source

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants

JCRPE, 2020
Objective:Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen
Tülay Güran, Başak Tezel, Meltem Çakır, Ayşehan Akıncı, Zerrin Orbak, Mehmet Keskin, Beray Selver Eklioğlu, Alev Ozon, Mehmet Nuri Özbek, Gülay Karagüzel, Nihal Hatipoğlu, Fatih Gürbüz, Filiz Mine Çizmecioğlu, Cengiz Kara, Enver Şimşek, Firdevs Baş, Murat Aydın, Feyza Darendeliler   +17 more
doaj   +1 more source