Endocrine Abstracts

Background: FOP is an ultra-rare genetic disorder characterised by episodic progressive heterotopic ossification (HO) and flare-ups, causing cumulative disability and early death. FOP is diagnosed and managed by multiple specialists, including endocrinologists. There are no established disease-modifying therapies to prevent HO in FOP. Treatment guidelines for symptomatic relief of FOP have recently been published by the International Clinical Council on FOP (ICC).1<...

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by cumulative heterotopic ossification (HO), often preceded by episodic flare-ups, leading to physical disability and early death. Initial misdiagnosis can occur in ~90% of individuals leading to unnecessary, often harmful interventions. FOP is diagnosed and managed by multiple specialists, including endocrinologists.Objective: A prospective, 36-month, global natural...

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities that share a common PTH/PTHrP signaling pathway. The clinical and molecular overlap of PHP and related disorders lead to difficulties in clinical and molecular diagnosis which prompt to the possibility of incorrect management of these patients. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseou...