Endocrine Abstracts

Case report: A previously well 16 year old female presented with a one day history of being unwell with agitation and confusion on the background of a three month history of polydipsia and polyuria. Initial biochemistry was in keeping with severe diabetic ketoacidosis (DKA): pH-6.75, HC03- 2.6 mmol/l, blood glucose- 21 mmol/l and ketones >4 mmol/l. Hypokalaemia of 3.3 mmol/l. She was admitted to ICU given the severity of DKA, biochemical disturbance and altered mental stat...

Introduction: We report a patient with a giant prolactinoma due to Multiple Endocrine Neoplasia type 1 (MEN1) with consequential growth hormone deficiency and central hypothyroidism.Case report: A 12-year-old girl attended the genetic clinic, as her father had MEN-1 mutation. On questioning, she reported severe headaches, increasing in frequency over several months, with fatigue and hair loss. She had breast development ...

Introduction: Duchenne Muscular Dystrophy (DMD) is an X-linked recessive neuromuscular disorder causing progressive muscular degeneration and weakness. The survival of patients with DMD has improved with multi-disciplinary team input. Sub-specialties have moved towards anticipatory diagnostic and therapeutic strategies which focus on prevention and treatment of modifiable disease complications. Endocrine complications of DMD include impaired growth, delayed pu...