Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

Autor: Lin, L., Naville, D., Achermann, Jc, Tomlinson, JW, Huebner, A., Arlt, W., Krone, Np, Berney, Dm, Racine, M., Nü, rnberg, G., Green, J., Begeot, M., Clark, Aj, rnberg, P., Metherell, La, Halaby, G.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=ec_fp7health::da19b53c305fd310a51cd792b4d0da9d

Service evaluation suggests variation in clinical care provision in adults with congenital adrenal hyperplasia in the UK and Ireland.

Autor: Doyle LM; Academic Division of Endocrinology, Department of Medicine, Royal College of Surgeons in Ireland (RCSI), Dublin, Ireland., Ahmed SF; Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK., Davis J; Society for Endocrinology, Bristol, UK., Elford S; CAH Support Group, Living with CAH, Cambridge, UK., Elhassan YS; Department of Endocrinology, Queen Elizabeth Hospital Birmingham, Birmingham, UK.; Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., James L; School of Medicine, University Hospital of Wales, Cardiff, UK., Lawrence N; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK., Llahana S; School of Health and Psychological Sciences, City, University of London, UK.; Department of Diabetes & Endocrinology, University College Hospital, London, UK., Okoro G; Society for Endocrinology, Bristol, UK., Rees DA; Neuroscience and Mental Health Innovation Institute, School of Medicine, Cardiff University, Cardiff, UK., Tomlinson JW; Oxford Centre for Diabetes, Endocrinology & Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., O'Reilly MW; Academic Division of Endocrinology, Department of Medicine, Royal College of Surgeons in Ireland (RCSI), Dublin, Ireland., Krone NP; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.

Publikováno v: Clinical endocrinology [Clin Endocrinol (Oxf)] 2024 Oct; Vol. 101 (4), pp. 386-396. Date of Electronic Publication: 2024 Mar 17.

Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022.

Autor: Tseretopoulou X; Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow G51 4TF, UK.; Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Ali SR; Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow G51 4TF, UK.; Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Bryce J; Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Amin N; Department of Paediatric Endocrinology, Leeds Teaching Hospitals NHS Trust, Leeds LS1 3EX, UK., Atapattu N; Department of Paediatric Endocrinology, Lady Ridgeway Hospital, Colombo 00800, Sri Lanka., Bachega TASS; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Disciplina de Endocrinologia, Hospital Das Clinicas, Faculdade De Medicina, Universidade de Sao Paulo, São Paulo, 05508-090, Brazil., Baronio F; Department Hospital of Woman and Child, Pediatric Unit, IRCCS-Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Ortolano R; Department Hospital of Woman and Child, Pediatric Unit, IRCCS-Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Birkebaek NH; Department of Paediatrics, Aarhus University Hospital, Aarhus DK-8200, Denmark., Bonfig W; Department of Paediatrics, Technical University München, D-80804 Munich, Germany.; Department of Paediatrics, Klinikum Wels-Grieskirchen, A-4600 Wels, Austria., Cools M; Department of Paediatric Endocrinology, University Hospital Ghent, Ghent University, 9000 Ghent, Belgium., Davies JH; Department of Paediatric Endocrinology, University Hospital Southampton, Southampton SO16 6YD, UK., Thomas T; Department of Paediatric Endocrinology, University Hospital Southampton, Southampton SO16 6YD, UK., de Vries L; The Jesse and Sara Lea Shafer Institute of Endocrinology and Diabetes, Schneider Children's Medical Center of Israel, Petah Tikvah 4920235, Israel.; Faculty of Medical&Health Sciences, Tel Aviv University, Tel Aviv 6997801, Israel., Elsedfy H; Department of Pediatrics, Ain Shams University, 11566 Cairo, Egypt., Amr NH; Department of Pediatrics, Ain Shams University, 11566 Cairo, Egypt., Flueck CE; Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Bern University Hospital Inselspital, University of Bern, 3010 Bern, Switzerland.; Pediatric Endocrinology, Diabetology and Metabolism, Department of BioMedical Research, Bern University Hospital Inselspital, University of Bern, 3010 Bern, Switzerland., Globa E; Ukrainian Scientific and Practical Center of Endocrine Surgery, Transplantation of Endocrine Organs and Tissues of MOH of Ukraine, Kyiv 01021, Ukraine., Guran T; Department of Pediatric Endocrinology and Diabetes, Marmara University, 34899 Pendik, Istanbul, Turkey., Yavas-Abali Z; Department of Pediatric Endocrinology and Diabetes, Marmara University, 34899 Pendik, Istanbul, Turkey., Guven A; Department of Paediatric Endocrinology, Baskent University Medical Faculty, Istanbul Hospital, 06790 Istanbul, Turkey., Hannema SE; Department of Pediatric Endocrinology, Amsterdam UMC location Vrije Universiteit Amsterdam, 1007 MB Amsterdam, The Netherlands., Iotova V; Department of Paediatrics, Medical University-Varna, UMHAT 'Sv. Marina,'  9002 Varna, Bulgaria., Konrad D; Department of Endocrinology and Diabetology, University Children's Hospital Zurich, University of Zurich, 8032 Zurich, Switzerland., Lenherr-Taube N; Department of Endocrinology and Diabetology, University Children's Hospital Zurich, University of Zurich, 8032 Zurich, Switzerland., Krone NP; Department of Oncology and Metabolism, University of Sheffield, Sheffield S10 2RX, UK., Leka-Emiri S; Department of Endocrinology-Growth and Development, 'P&A Kyriakou' Children's Hospital, Athens 115 27, Greece., Vlachopapadopoulou E; Department of Endocrinology-Growth and Development, 'P&A Kyriakou' Children's Hospital, Athens 115 27, Greece., Lichiardopol C; Department of Endocrinology, University of Medicine and Pharmacy Craiova, University Emergency Hospital, Craiova 200349, Romania., Marginean O; Department of Paediatrics, University of medicine and Pharmacy 'Victor Babes', Clinical children emergency hospital 'Louis Turcanu' Timisora, Timisora 300011, Romania., Markosyan R; Department of Endocrinology, YSMU, Yerevan 0025, Armenia., Neumann U; Department of Paediatric Endocrinology and Diabetology, Centre for Chronic Sick Children, Institute for Experimental Paediatric Endocrinology, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany., Niedziela M; Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, 61 701 Poznan, Poland., Banaszak-Ziemska M; Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, 61 701 Poznan, Poland., Phan-Hug F; Paediatric Endocrinology, EHC-Morges, 1110 Morges, Switzerland.; Paediatric Endocrinology, Hospital Valais-Sion, 1950 Sion, Switzerland., Poyrazoglu S; Istanbul Faculty of Medicine, Department of Paediatrics, Paediatric Endocrinology Unit, Istanbul University, 34093 Çapa, Istanbul, Turkey., Probst-Scheidegger U; Department of Paediatric Endocrinology, Kantonsspital Winterthur, 8401 Zurich, Switzerland., Randell T; Department of Paediatric Endocrinology, Nottingham Children's Hospital, Nottingham NG7 2UH, UK., Russo G; Department of Paediatrics, Endocrine Unit, RCCS Ospedale San Raffaele, 20132 Milan, Italy., Salerno M; Department of Pediatrics, Unit of Immunology, Federico II University, 80131 Naples, Italy., Seneviratne S; Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo 00700, Sri Lanka., Shnorhavorian M; Department of Urology, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA., Thankamony A; Department of Paediatrics,University of Cambridge, Cambridge CB2 2QQ, UK., Tadokoro-Curraro R; Department of Paediatrics,University of Cambridge, Cambridge CB2 2QQ, UK., van den Akker E; Division of Pediatric Endocrinology, Department of Pediatrics, Erasmus MC-Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands., van Eck J; Division of Pediatric Endocrinology, Department of Pediatrics, Erasmus MC-Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands., Vieites A; Centro de Investigaciones Endocrinológicas, División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, 1425 Buenos Aires, Argentina., Wasniewska M; Pediatric Unit, Department of Human Pathology of Adulthood and Childhood, University of Messina, 98166 Messina, Italy., Ahmed SF; Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow G51 4TF, UK.; Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.

Publikováno v: Journal of the Endocrine Society [J Endocr Soc] 2024 Aug 20; Vol. 8 (10), pp. bvae145. Date of Electronic Publication: 2024 Aug 20 (Print Publication: 2024).

Blood Pressure in Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.

Autor: Balagamage C; Department of Endocrinology, Birmingham Women's and Children's Hospital, Birmingham, UK.; Department of Endocrinology, Sheffield Children's Hospital, Sheffield, UK., Lawrence NR; Department of Endocrinology, Sheffield Children's Hospital, Sheffield, UK.; Division of Clinical Medicine, University of Sheffield, Sheffield, UK., Krone R; Department of Endocrinology, Birmingham Women's and Children's Hospital, Birmingham, UK., Bacila IA; Department of Endocrinology, Sheffield Children's Hospital, Sheffield, UK.; Division of Clinical Medicine, University of Sheffield, Sheffield, UK., Krone NP; Department of Endocrinology, Sheffield Children's Hospital, Sheffield, UK.; Division of Clinical Medicine, University of Sheffield, Sheffield, UK.

Publikováno v: Hormone research in paediatrics [Horm Res Paediatr] 2024; Vol. 97 (4), pp. 315-325. Date of Electronic Publication: 2023 Aug 23.

Glucocorticoid receptor regulates protein chaperone, circadian clock and affective disorder genes in the zebrafish brain.

Autor: Eachus H; School of Biosciences, University of Sheffield, Firth Court, Western Bank, Sheffield S10 2TN, UK.; Department of Oncology and Metabolism, Medical School, University of Sheffield, Beech Hill Road, Sheffield S10 2RX, UK., Oberski L; School of Biosciences, University of Sheffield, Firth Court, Western Bank, Sheffield S10 2TN, UK.; Department of Oncology and Metabolism, Medical School, University of Sheffield, Beech Hill Road, Sheffield S10 2RX, UK., Paveley J; School of Biosciences, University of Sheffield, Firth Court, Western Bank, Sheffield S10 2TN, UK.; Department of Oncology and Metabolism, Medical School, University of Sheffield, Beech Hill Road, Sheffield S10 2RX, UK., Bacila I; Department of Oncology and Metabolism, Medical School, University of Sheffield, Beech Hill Road, Sheffield S10 2RX, UK., Ashton JP; School of Biosciences, University of Sheffield, Firth Court, Western Bank, Sheffield S10 2TN, UK., Esposito U; School of Biosciences, University of Sheffield, Firth Court, Western Bank, Sheffield S10 2TN, UK., Seifuddin F; Bioinformatics and Computational Biology, National Heart, Lung and Blood Institute, National Institutes of Health, Building 12, 12 South Drive, Bethesda, MD 20892, USA., Pirooznia M; Bioinformatics and Computational Biology, National Heart, Lung and Blood Institute, National Institutes of Health, Building 12, 12 South Drive, Bethesda, MD 20892, USA., Elhaik E; School of Biosciences, University of Sheffield, Firth Court, Western Bank, Sheffield S10 2TN, UK., Placzek M; School of Biosciences, University of Sheffield, Firth Court, Western Bank, Sheffield S10 2TN, UK., Krone NP; Department of Oncology and Metabolism, Medical School, University of Sheffield, Beech Hill Road, Sheffield S10 2RX, UK.; Department of Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Cunliffe VT; School of Biosciences, University of Sheffield, Firth Court, Western Bank, Sheffield S10 2TN, UK.

Publikováno v: Disease models & mechanisms [Dis Model Mech] 2023 Sep 01; Vol. 16 (9). Date of Electronic Publication: 2023 Oct 02.