Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement

摘要: This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, stature, a stocky build, early-onset obesity ectopic ossifications, as well endocrine defects often resistance to parathyroid hormone (PTH) TSH. The presentation severity PHP its vary between affected individuals considerable clinical molecular overlap different types. A specific is delayed owing lack recognition syndrome associated features. participants in this agreed should be based on major criteria, including PTH, brachydactyly obesity. laboratory confirmed genetic analysis. Patients screened at during follow-up features, such PTH resistance, TSH growth deficiency, hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, hypertension, subcutaneous and/or deeper ossifications neurocognitive impairment. Overall, coordinated multidisciplinary approach from infancy through adulthood, transition programme, help us improve care these disorders.