Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021).

Autor: Ahmed SF; Developmental Endocrinology Research Group, School of Medicine, Dentistry and Nursing, University of Glasgow, Glasgow, UK.; Royal Hospital for Children, NHS Greater Glasgow & Clyde, Glasgow, UK.; Office for Rare Conditions, School of Medicine, Dentistry and Nursing, University of Glasgow, Glasgow, UK., Achermann J; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, UK., Alderson J; Psychological Health Services, University Hospitals Bristol & Weston NHS Foundation Trust, Bristol, UK., Crouch NS; Department of Women's Health, St Michael's Hospital, University Hospitals Bristol & Weston NHS Foundation Trust, Bristol, UK., Elford S; CAH Support Group, Crewe, UK., Hughes IA; DSDFamilies, UK.; Department of Paediatrics, University of Cambridge, Cambridge, UK., Krone N; Academic Unit of Child Health, Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK., McGowan R; Developmental Endocrinology Research Group, School of Medicine, Dentistry and Nursing, University of Glasgow, Glasgow, UK.; West of Scotland Centre for Genomic Medicine, NHS Greater Glasgow & Clyde, Glasgow, UK., Mushtaq T; Department of Paediatric Endocrinology, Leeds Teaching Hospitals NHS Trust, Leeds, UK., O'Toole S; Royal Hospital for Children, NHS Greater Glasgow & Clyde, Glasgow, UK.; Department of Paediatric Urology, Royal Hospital for Children, NHS Greater Glasgow & Clyde, Glasgow, UK., Perry L; Department of Clinical Biochemistry, Croydon University Hospital, London, UK., Rodie ME; Royal Hospital for Children, NHS Greater Glasgow & Clyde, Glasgow, UK.; Office for Rare Conditions, School of Medicine, Dentistry and Nursing, University of Glasgow, Glasgow, UK.; Department of Neonatology, Queen Elizabeth University Hospital, Glasgow, UK., Skae M; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Turner HE; Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Jazyk: angličtina
Zdroj: Clinical endocrinology [Clin Endocrinol (Oxf)] 2021 Dec; Vol. 95 (6), pp. 818-840. Date of Electronic Publication: 2021 Jun 22.
DOI: 10.1111/cen.14528
Abstrakt: It is paramount that any child or adolescent with a suspected difference or disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD and is discussed with the regional DSD service. In most cases, the paediatric endocrinologist within this service acts as the first point of contact but involvement of the regional multidisciplinary service will also ensure prompt access to specialist psychology and nursing care. The underlying pathophysiology of DSD and the process of delineating this should be discussed with the parents and affected young person with all diagnostic tests undertaken in a timely fashion. Finally, for rare conditions such as these, it is imperative that clinical experience is shared through national and international clinical and research collaborations.
(© 2021 The Authors. Clinical Endocrinology published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
Externí odkaz: