Results 91 to 100 of about 54,890 (322)

Genetics of congenital adrenal hyperplasia [PDF]

Best Practice & Research Clinical Endocrinology & Metabolism, 2009
Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of one of four steroidogenic enzymes involved in cortisol biosynthesis or in the electron donor enzyme P450 oxidoreductase (POR) that serves as electron donor to steroidogenic ...
Nils Krone, Wiebke Arlt
openaire   +3 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, B. Carvalho, A. Palmeiro, A. Barros, Susana G Guerreiro, D. Macut   +5 more
semanticscholar   +1 more source

Increased risk of osteoporotic fractures and osteoporosis in patients with Addison's disease in Sweden: A nationwide population‐based cohort study

Journal of Internal Medicine, Volume 297, Issue 5, Page 518-531, May 2025.
Abstract Background The risk of major osteoporotic fractures (MOFs) and osteoporosis in patients with autoimmune Addison's disease (AAD) is unclear. Objective To investigate the risk of MOF in patients with AAD and the possible correlation with adrenal hormone replacement doses.
Stavros Stergianos, Tim Spelman, Daniel Eriksson, Sara Öster, Sigridur Björnsdottir, Olle Kämpe, Jakob Skov, Sophie Bensing   +7 more
wiley   +1 more source

Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]

, 2015
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V., Emmanouil, Dimitris E., Kontogiorgos, Elias D.   +2 more
core   +1 more source

Multiomics and Systematic Analyses Reveal the Roles of Hemoglobin and the HIF‐1 Pathway in Polycystic Ovary Syndrome

Advanced Science, Volume 12, Issue 14, April 10, 2025.
High‐end normal hemoglobin levels are associated with an increased odds of polycystic ovary syndrome (PCOS), potentially through a mechanism of elevating testosterone levels involving the hypoxia‐inducible factor 1 (HIF‐1) pathway. These findings provide novel insights into the pathophysiology of PCOS and highlight that hemoglobin levels may serve as a
Guiquan Wang, Weian Mao, Yurong Zhang, Haiyan Yang, Ming Zhu, Yan Li, Wei Chen, Yi Chen, Chen Lou, Ping Li, Hsun‐Ming Chang, Shuai Yuan, Yue Zhao, Liangshan Mu   +13 more
wiley   +1 more source

Adrenal Crisis [PDF]

, 2019
Glucocorticoid replacement therapy, available since the 1950s, has prolonged the survival of patients with adrenal insufficiency. However, adrenal crises, which are life-threatening medical emergencies, still develop in many affected patients.
Falhammar, Henrik, Rushworth, R Louise, Torpy, David J   +2 more
core   +1 more source

Novel associations in disorders of sex development: findings from the I-DSD registry [PDF]

, 2013
Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.<p></p> Objective: To report ...
Ahmed, Ahmed, Ahmed, Ahmed, Akre, Antonio Balsamo, Bangsbøll, Bebermeier, Berger, De Groote, Dolk, Duguid, Feyza Darendeliler, Flück, Gottlieb, Guerrier, Hiort, Hughes, Hughes, Hughes, Ieuan Hughes, Jillian Bryce, Jipu Jiang, Kathryn Cox, Kreidberg, Köhler, Laura Audi, Lidka Lisa, Martina Rodie, Martine Cools, Melià, Miles, Mona Alkhawari, Mona Ellaithi, Morcel, Nabhan, Nils Krone, Nowaczyk, Olaf Hiort, Olle Soder, Ono, Pang, Paul-Martin Holterhus, Peter Wieacker, Porter, Richard Sinnott, S. Faisal Ahmed, Silvano Bertelloni, Stenvert Drop, Sun, Telvi, Thyen, Tokgoz, Tosson, Tulay Guran, Wiebke Arlt, Yang, Yinon, Yves Morel   +58 more
core   +3 more sources

Expanded carrier screening for inherited genetic disease using exome and genome sequencing

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow for identifying risk alleles for autosomal recessive (AR) and X‐linked (XL) disorders without the constraints of a predetermined ...
N. Belnap, K. Ramsey, A. Abraham, A. Ryan, S. Rangasamy, A. Bonfitto, M. Naymik, M. Huentelman, S. Strom, D. Perry, A. Subramaniam, W. W. Grody, S. Szelinger, V. Narayanan   +13 more
wiley   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2024: A year in review

British Journal of Pharmacology, Volume 182, Issue 7, Page 1416-1445, April 2025.
Abstract In the past year, the European Medicines Agency (EMA), the Food and Drug Administration (FDA) and the Medicines and Healthcare Products Regulatory Agency (MHRA) authorised 53 novel drugs. While the 2024 harvest is not as rich as in 2023, when 70 new chemical entities were approved, the number of ‘orphan’ drug authorisations in 2024 (21) is ...
Stavros Topouzis, Andreas Papapetropoulos, Steve P. H. Alexander, Miriam Cortese‐Krott, Dave A. Kendall, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Mauro M. Teixeira, Nathalie Vergnolle, Xin Wang, Péter Ferdinandy   +16 more
wiley   +1 more source

DEVELOPMENT OF POLYCYSTIC OVARY SYNDROME IN A PATIENT SUFFERING FROM CLASSIC CONGENITAL ADRENAL CORTICAL HYPERPLASIA

Кубанский научный медицинский вестник, 2017
Aim. To demostrate the complexity of the diagnosis and the consequences of the effect of insufficient hormone replacement therapy on the prognosis of the patient with the viril form of congenital adrenal cortical hyperplasia. Materials and methods.
L. A. IVANOV, I. V. KOROL, YU. S. KOVALENKO, E. A. KOKOVA, A. V. MEZINOVA, Y. A. LIPNICKAYA   +5 more
doaj   +1 more source