Endocrine Abstracts

Introduction: PTEN Hamartoma Tumor Syndrome (PHTS)is a rare genetic spectrum of disorders characterised by multiple hamartomas and increased risk of cancers including thyroid cancer. People with PHTS have an increased lifetime risk of differentiated thyroid carcinoma (DTC), estimated to be about 35% compared to the general population risk of below 1% (1). Case Presentation: We report a 38-year-old male who presented with a Goitre found on routine examina...

Introduction: Pseudohypoparathyroidism (PHP) is a rare cause of hypocalcaemia due to parathyroid hormone (PTH) resistance in the proximal renal tubules. In contrast to PHP type 1A, PHP type 1B is characterised by the absence of the characteristic skeletal abnormalities and is transmitted in an autosomal dominant manner, but in the maternal line. Patients may have resistance to the action of other G-protein signaling hormones, like thyroid stimulating hormone (TSH).<p class...