Searchable abstracts of presentations at key conferences in endocrinology

ea0086mte6 | Bone and Calcium | SFEBES2022

Imaging of bone for endocrinologists; from DXA onwards

Poole Kenneth

Osteoporosis causes bones to become weak, porous and fracture more easily. While a vertebral fracture is the archetypal fracture of osteoporosis, it is also the most difficult to diagnose clinically. Patients often suffer further spine or other fractures, deformity, height loss and pain before diagnosis. There were an estimated 520, 000 fragility fractures in the UK in 2017 (costing È4.5 billion), a figure set to increase 30% by 2030. One way to improve both vertebral f...

ea0065op4.2 | Bone and Calcium | SFEBES2019

Identification of novel pathogenic variants and phenotypic features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly defined inactivating PTH/PTHrP signalling disorders (iPPSD) classification system

Truelove Adam , Mulay Akhilesh , Prapa Matina , Casey Ruth , Adler Amanda , Offiah Amaka , Poole Kenneth , Trotman Jamie , Hasso Namir Al , Park Soo-Mi

Due to overlapping clinical and biochemical features, disorders now known to be molecular defects in the parathyroid hormone (PTH)-receptor signalling pathway, such as Albright Hereditary Osteodystrophy (AHO), pseudohypoparathyroidism (PHP), and acrodysostosis, have been historically confused. AHO is a complex disorder defined by the presence of a short adult stature relative to the height of an unaffected parent and brachydactyly type E, as well as a stocky build, round face,...