Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients - Université Paris-Saclay Accéder directement au contenu
Article Dans Une Revue Hormone Research in Paediatrics Année : 2020

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

S. Faisal Ahmed
Timothée Choplin
  • Fonction : Auteur
Guillemette Devernois
  • Fonction : Auteur
Francesca M. Elli
  • Fonction : Auteur
Aurora Garcia Ramirez
  • Fonction : Auteur
Emily L. Germain-Lee
  • Fonction : Auteur
Neveen A.T. Hamdy
  • Fonction : Auteur
Olaf Hiort
Harald Jüppner
  • Fonction : Auteur
Nina Knight
  • Fonction : Auteur
Elvire Le Norcy
  • Fonction : Auteur
Beatriz Lecumberri
  • Fonction : Auteur
Michael A. Levine
  • Fonction : Auteur
Outi Mäkitie
Regina Martin
  • Fonction : Auteur
Gabriel Ángel Martos-Moreno
  • Fonction : Auteur
Manasori Minagawa
  • Fonction : Auteur
Philip Murray
  • Fonction : Auteur
Arrate Pereda
  • Fonction : Auteur
Robert Pignolo
  • Fonction : Auteur
Lars Rejnmark
  • Fonction : Auteur
Rebeca Rodado
  • Fonction : Auteur
Anya Rothenbuhler
  • Fonction : Auteur
Vrinda Saraff
  • Fonction : Auteur
Ashley H. Shoemaker
Eileen M. Shore
  • Fonction : Auteur
Caroline Silve
  • Fonction : Auteur
Serap Turan
Philip Woods
  • Fonction : Auteur
M. Carola Zillikens
  • Fonction : Auteur
Guiomar Perez de Nanclares
Agnès Linglart

Résumé

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.

Dates et versions

hal-04319331 , version 1 (02-12-2023)

Identifiants

Citer

Giovanna Mantovani, Murat Bastepe, David Monk, Luisa de Sanctis, Susanne Thiele, et al.. Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients. Hormone Research in Paediatrics, 2020, 93 (3), pp.182-196. ⟨10.1159/000508985⟩. ⟨hal-04319331⟩
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