Searchable abstracts of presentations at key conferences in endocrinology

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,...