Results 61 to 70 of about 32,144 (200)

Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia [PDF]

Endocrinology and Metabolism Clinics of North America, 2015
Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids (primarily aldosterone), glucocorticoids (primarily cortisol), and adrenal androgens (primarily dehydroepiandrosterone and its sulfate) occur in separate adrenal cortical ...
Adina F, Turcu, Richard J, Auchus
openaire   +2 more sources

Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Biology of Sex Differences, 2011
Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD) in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations
Chalmers Laura J, Doherty Paul, Migeon Claude J, Copeland Kenneth C, Bright Brianna C, Wisniewski Amy B   +5 more
doaj   +1 more source

GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report

BMC Pediatrics, 2022
Background Primary adrenal insufficiency in children has non-specific and extensive clinical features, so the diagnosis of its etiology is complex and challenging.
Yajie Tong, Dongmei Yue, Ying Xin, Dan Zhang   +3 more
doaj   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 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

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Louise A. Metherell, Danielle Naville, George Halaby, Martine Begeot, Angela Huebner, Gudrun Nürnberg, Peter Nürnberg, Jane Green, Jeremy W. Tomlinson, Nils P. Krone, Lin Lin, Michael Racine, Dan M. Berney, John C. Achermann, Wiebke Arlt, Adrian J. L. Clark, Clark, Tsigos, Cooray, Metherell, Génin, Fujieda, Stocco, Bhangoo, Qiu, Chen, Nakae, Korsch, Flück, Bose, Fujieda, Okuyama, Baker, O'Riordan, Miller, Miller, Aya, Lin, Lin   +38 more
core   +1 more source

Cerebrovascular Function in Women With Polycystic Ovary Syndrome: A Pilot Multi‐Parameter Magnetic Resonance Imaging Study

Clinical Endocrinology, EarlyView.
ABSTRACT Objective Polycystic ovary syndrome (PCOS) is associated with an increased risk of cerebrovascular disease, but the effects on cerebrovascular function are unknown. In this pilot study, we sought to compare cerebrovascular perfusion, pulsatility, reactivity and metabolism between women with PCOS and healthy volunteers using MRI, and ...
Melissa E. Wright, Cory T. Richards, Saajan Davies, Rachel N. Lord, D. Aled Rees, Kevin Murphy   +5 more
wiley   +1 more source

Congenital Adrenal Hyperplasia: A Review of Current Knowledge and Future Directions

Quality in Sport
Introduction: Congenital adrenal hyperplasia (CAH) is a group of diseases in which genetic defects occur that disturb the synthesis of cortisol. The most common variant of CAH (95%-99%) is caused by 21-hydroxylase deficiency as a result of mutations in ...
Zuzanna Szczepaniak, Agata Konopka, Natalia Wdowiak, Karina Lissak, Małgorzata Komarów, Martyna Choinka, Dominika Karasińska, Jakub Kalisiak   +7 more
doaj   +1 more source

Resting Cerebrovascular Haemodynamics and Dynamic Assessment of Cerebrovascular Function in Polycystic Ovary Syndrome

Clinical Endocrinology, Volume 104, Issue 3, Page 245-254, March 2026.
ABSTRACT Objective Despite an increased cerebrovascular disease risk, the impact of Polycystic Ovary Syndrome (PCOS) on cerebrovascular haemodynamics and function is unknown. This study characterised cerebrovascular haemodynamics and function in women with PCOS versus healthy controls. Design Case‐control study.
Cory T. Richards, Thomas D. Griffiths, Zoe H. Adams, Melissa E. Wright, Saajan Davies, Jack S. Talbot, Lauren Broad‐Thomas, Diego García Esteban, Jessica J. Steventon, Patrice Brassard, Kevin Murphy, Philip E. James, D. Aled Rees, Rachel N. Lord   +13 more
wiley   +1 more source

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

Cell Reports, 2018
Summary: Adrenal insufficiency is managed by hormone replacement therapy, which is far from optimal; the ability to generate functional steroidogenic cells would offer a unique opportunity for a curative approach to restoring the complex feedback ...
Gerard Ruiz-Babot, Mariya Balyura, Irene Hadjidemetriou, Sharon J. Ajodha, David R. Taylor, Lea Ghataore, Norman F. Taylor, Undine Schubert, Christian G. Ziegler, Helen L. Storr, Maralyn R. Druce, Evelien F. Gevers, William M. Drake, Umasuthan Srirangalingam, Gerard S. Conway, Peter J. King, Louise A. Metherell, Stefan R. Bornstein, Leonardo Guasti   +18 more
doaj   +1 more source