Endocrine Abstracts

Background: Pseudohypoparathyroidism type 1a (PHP1a) is a rare disorder caused by a maternally inherited mutation in the GNAS gene. PHP1a is usually diagnosed in childhood due to a distinctive phenotype that includes short stature, brachydactly, ectopic ossifications, and multi-hormone resistance. These features are associated with resistance to parathyroid hormone (PTH).Case: We report the case of a 3.4-year-old boy who presented with a general...