Endocrine Abstracts

Introduction: Macrohormones are complexes of monomeric hormone molecules with IgG leading to formation of macrocomplexes. They are usually immunoreactive, but biologically inactive. The higher molecular weight results in reduced renal clearance and therefore accumulation in the blood. We present two cases of unusual macrohormones.Case 1: A 55-year-old male had his thyroid function checked as part of investigation for chest pain, and was started on thyrox...

Introduction: Hypophosphatasia (HPP) is a very rare systemic musculoskeletal disease characterised by low tissue non-specific alkaline phosphatase (ALP). The prevalence of HPP and its associated morbidity in an adult setting is unclear.Methods: A search for serum ALP results less than 36 IU/l within NHS Greater Glasgow and Clyde between 2017 and 2018 revealed 16 280 results. A further search for patients with two ALP <36 separated by 30 days or more ...

Grave’s disease is an autoimmune condition commonly presenting with symptoms of hyperthyroidism including weight loss, palpations and tremor; rarely, it presents more atypically.A 35-year-old male (non-smoker, no significant history) presented with an atraumatic femur fracture. He was incidentally noted to have a large goitre, tachycardia and mild proptosis but no symptoms of hyperthyroidism. Further bloodwork revealed iron deficiency, unremarkable tumour markers includin...

Introduction: Hypophosphatasia is a very rare inherited condition due to ALPL variants and is associated with a variable presentation.Case description: The index case initially presented at 7 months with bulging anterior fontanelle, failure to thrive and mild developmental delay. She was born at 34 weeks gestation and had amniotic bands causing digital anomalies. She was sitting at 8 months, crawling by 15 months and a hearing test was normal. A...