Endocrine Abstracts

Introduction: We present an unusual case of hypophosphataemia with diagnostic dilemma.Case: 43-year-old female presented with 4-year history of muscle weakness, fatigue, bony pains, and limb paraesthesia. There was no background of fractures or iron deficiency. Her medications included amitriptyline and probiotics. She was a non-smoker and teetotaller; mother was short stature, father normal height. There was no family h...

Introduction: Resistance to thyroid hormone (RTH) is an autosomal dominant condition with mutation of thyroid hormone receptor beta (THR-β) gene. We present 2 cases with unusual thyroid picture posing challenge to diagnosis.Case 1: 31-year-old lady presented with 6-month history of anxiety, tremors, insomnia and headache. She suffered from asthma and had a family history of hyperthyroidism. On examination, she was o...

Background and Aim: Primary hyperparathyroidism (PHPT) is a common endocrine disorder. A small proportion of these patients may have syndromic conditions such as multiple endocrine neoplasia (MEN) or familial hypocalciuric hypercalcemia (FHH). The UK national guidelines recommend genetic testing for familial hyperparathyroidism in individuals under 50 or any age with specific criteria such as family history, multi glandular disease, hyperplasia, or parathyroid carcinoma. Genet...