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AEP544 : Expanding the clinical and genetic spectrum of 17α-Hydroxylase/17,20-Lyase deficiency: 7 cases and 5 novel mutations in the CYP17A1 gene

Researchers

Presenter

  • Min Sun

Principal Investigators

  • Jonathan Mller

  • Lorna Gilligan

  • Angela Taylor

  • Fozia Shaheen

  • Tim Cheetham

  • Louise Denvir

  • Helena Gleeson

  • Savitha Shenoy

  • Maria Szarras-Czapnik

  • Mushtaqur Rahman

  • Norman Taylor

  • Guy Tsjoen

  • Cedric Shackleton

  • Wiebke Arlt

  • Jan Idkowiak

Medical Centers

  • University of Birmingham, Institute of Metabolism and Systems Research, Birmingham, United Kingdom

  • University of Birmingham, Centre for Endocrinology, Diabetes and Metabolism (CEDAM), Birmingham, United Kingdom

  • Royal Victoria Infirmary, Department of Paediatric Endocrinology, Newcastle Upon Tyne, United Kingdom

  • Queen’s Medical Centre, Department of Paediatric Endocrinology and Diabetes, Notingham, United Kingdom

  • University Hospitals Birmingham NHS Foundation Trust, Department of Histopathology, Birmingham, UK

  • University Hospitals of Leicester NHS Trust, Children’s and Adolescent Services, Leceister, United Kingdom

  • ChildrenMemorial Health Institute, Department of Biochemistry and Experimental Medicine, Warsaw, Poland

  • Northwick Park Hospital, Department of Endocrinology, London, United Kingdom

  • King's College Hospital, Department of Internal Medicine, London, United Kingdom

  • University of Ghent, Department of Endocrinology, Ghent, Belgium

  • Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Department of Endocrinology and Diabetes, Birmingham, United Kingdom

Locations

  • United Kingdom

  • Poland

  • Belgium

Companies

  • N/A

Study Components

Therapeutic Area

  • Gastroenterology (GU)

Disease

  • Congenital adrenal hyperplasia

  • Primary aldosteronism

  • Addison's disease

  • Hyperbilirubinemia

Biomarkers

  • Adrenocorticotropic hormone

  • Cortisol

  • Cytochrome P450 Family 17 subfamily A member 1

Drug/Treatment

  • prasterone

  • Glucocorticoid

Outcome

  • N/A

Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A

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