Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients

Giovanna Mantovani, Murat Bastepe, David Monk, Luisa de Sanctis, Susanne Thiele, S. Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo De Filippo, Guillemette Devernois, Thomas Eggermann, Francesca M. Ell, Aurora Garcia Ramirez, Emily L. Germain-Lee, Lionel Groussin, Neveen A.T. Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter KamenickýNina Knight, Elvire Le Norcy, Beatriz Lecumberri, Michael A. Levine, Outi Mäkitie, Regina Martin, Gabriel Ángel Martos-Moreno, Manasori Minagawa, Philip Murray, Arrate Pereda, Robert Pignolo, Lars Rejnmark, Rebeca Rodado, Anya Rothenbuhler, Vrinda Saraff, Ashley H. Shoemaker, Eileen M. Shore, Caroline Silve, Serap Turan, Philip Woods, M. Carola Zillikens, Guiomar Perez de Nanclares, Agnès Linglart

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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.

Original languageEnglish
Pages (from-to)182-196
Number of pages15
JournalHormone Research in Paediatrics
Volume93
Issue number3
Early online date5 Aug 2020
DOIs
Publication statusPublished - 1 Sep 2020

Keywords

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

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