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      Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.

      1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 8 , 10 , 1 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 5 , 2 , 17 , 18 , 19 , 20 , 15 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 11 , 18 , 37 , 38 , 39 , 40 , 41 , 42 , 20 , 43 , 44 , 17 , 18 , 37
      Hormone research in paediatrics
      S. Karger AG
      Acrodysostosis, Bone disorders, Brachydactyly, Calcium and phosphate metabolism, Consensus, Diagnosis, Management, Ossification, Parathyroid hormone, Pseudohypoparathyroidism, Treatment

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          Abstract

          Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental deficits, as well as hormonal resistance most prominently to parathyroid hormone (PTH). In addition to these alterations, patients may develop other hormonal resistances, leading to overt or subclinical hypothyroidism, hypogonadism and growth hormone (GH) deficiency, impaired growth without measurable evidence for hormonal abnormalities, type 2 diabetes, and skeletal issues with potentially severe limitation of mobility. PHP and related disorders are primarily clinical diagnoses. Given the variability of the clinical, radiological, and biochemical presentation, establishment of the molecular diagnosis is of critical importance for patients. It facilitates management, including prevention of complications, screening and treatment of endocrine deficits, supportive measures, and appropriate genetic counselling. Based on the first international consensus statement for these disorders, this article provides an updated and ready-to-use tool to help physicians and patients outlining relevant interventions and their timing. A life-long coordinated and multidisciplinary approach is recommended, starting as far as possible in early infancy and continuing throughout adulthood with an appropriate and timely transition from pediatric to adult care.

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          Author and article information

          Journal
          Horm Res Paediatr
          Hormone research in paediatrics
          S. Karger AG
          1663-2826
          1663-2818
          2020
          : 93
          : 3
          Affiliations
          [1 ] Endocrinology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
          [2 ] Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
          [3 ] Biomedical Research Centre, University of East Anglia, Norwich Research Park, Norwich, United Kingdom.
          [4 ] Pediatric Endocrinology Unit, Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.
          [5 ] Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lübeck, Lübeck, Germany.
          [6 ] Developmental Endocrinology Research Group, School of Medicine, Dentistry and Nursing, University of Glasgow, Glasgow, United Kingdom.
          [7 ] Italian Progressive Osseous Heteroplasia Association (IPOHA), Foggia, Italy.
          [8 ] K20, French PHP and Related Disorders Patient Association, Jouars-Pontchartrain, France.
          [9 ] APHP, Department of Medicine for Adolescents, Bicêtre Paris Saclay Hospital (HUPS), Le Kremlin-Bicêtre, France.
          [10 ] Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
          [11 ] AEPHP, Spanish PHP and Related Disorders Patient Association, Almería, Spain.
          [12 ] Albright Center and Center for Rare Bone Disorders, Division of Pediatric Endocrinology and Diabetes, Connecticut Children's Medical Center, Farmington, Connecticut, USA.
          [13 ] Department of Pediatrics, University of Connecticut School of Medicine, Farmington, Connecticut, USA.
          [14 ] APHP, Department of Endocrinology, Cochin Hospital (HUPC), Paris, France.
          [15 ] University of Paris Descartes, Sorbonne Paris Cité, Paris, France.
          [16 ] Division of Endocrinology and Centre for Bone Quality, Department of Medicine, Leiden University Medical Center, Leiden, The Netherlands.
          [17 ] INSERM U1185, Bicêtre Paris Sud - Paris Saclay University, Le Kremlin-Bicêtre, France.
          [18 ] APHP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise Paris-Saclay for Rare Diseases and Filière OSCAR, Bicêtre Paris Saclay Hospital (HUPS), Le Kremlin-Bicêtre, France.
          [19 ] APHP, Department of Endocrinology and Reproductive Diseases, Bicêtre Paris Saclay Hospital (HUPS), Le Kremlin-Bicêtre, France.
          [20 ] Acrodysostosis Support and Research patients' group, London, United Kingdom.
          [21 ] APHP, Department of Odontology, Bretonneau Hospital (PNVS), Paris, France.
          [22 ] Department of Endocrinology and Nutrition, La Paz University Hospital, Madrid, Spain.
          [23 ] Department of Medicine, Autonomous University of Madrid (UAM), Madrid, Spain.
          [24 ] Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain.
          [25 ] Division of Endocrinology and Diabetes and Center for Bone Health, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
          [26 ] Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
          [27 ] Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
          [28 ] Osteometabolic Disorders Unit, Hormone and Molecular Genetics Laboratory (LIM/42), Endocrinology Division, Hospital das Clínicas HCFMUSP, Faculty of Medicine, University of Sao Paulo, Sao Paulo, Brazil.
          [29 ] Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Hospital La Princesa Institute for Health Research (IIS La Princesa), Madrid, Spain.
          [30 ] Department of Pediatrics, Autonomous University of Madrid (UAM), Madrid, Spain.
          [31 ] CIBERobn, Instituto de Salud Carlos III, Madrid, Spain.
          [32 ] Division of Endocrinology, Chiba Children's Hospital, Chiba, Japan.
          [33 ] Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
          [34 ] Molecular (Epi)Genetics Laboratory, BioAraba Research Health Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Spain.
          [35 ] Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.
          [36 ] Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.
          [37 ] APHP, Endocrinology and Diabetes for Children, Bicêtre Paris Saclay Hospital (HUPS), Le Kremlin-Bicêtre, France.
          [38 ] Department of Endocrinology and Diabetes, Birmingham Children's Hospital, Birmingham, United Kingdom.
          [39 ] Pediatric Endocrinology and Diabetes, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
          [40 ] Departments of Orthopedic Surgery and Genetics, Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
          [41 ] APHP, Service de Biochimie et Génétique Moléculaires, Hôpital Cochin, Paris, France.
          [42 ] Department of Pediatrics, Division of Endocrinology and Diabetes, Marmara University, Istanbul, Turkey.
          [43 ] Department of Internal Medicine, Bone Center Erasmus MC - University Medical Center Rotterdam, Rotterdam, The Netherlands.
          [44 ] Molecular (Epi)Genetics Laboratory, BioAraba Research Health Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Spain, gnanclares@osakidetza.eus.
          Article
          000508985 NIHMS1699566
          10.1159/000508985
          8140671
          32756064
          3060e227-6530-4298-9871-ad742e0a4040
          © 2020 S. Karger AG, Basel.
          History

          Acrodysostosis,Bone disorders,Brachydactyly,Calcium and phosphate metabolism,Consensus,Diagnosis,Management,Ossification,Parathyroid hormone,Pseudohypoparathyroidism,Treatment

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