Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

ABSTRACT: This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should

SUBMITTER: Mantovani G 

PROVIDER: S-EPMC6541219 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature