Endocrine Abstracts

Background: Type 1 diabetes (T1D) is a metabolic disease of unknown aetiology that results from the autoimmune destruction of the insulin-producing pancreatic β-cells. Exogenous insulin administration is the only treatment for patients. Partial remission or “honeymoon phase” classically occurs a few weeks after insulin therapy has been initiated. During this stage the patient’s need for exogenous insulin can decline by 50%, and near-normal metabolic control...

15-year-old girl presented to the psychiatrist with behavioural problems, fluctuation in mood, paranoia, low self-confidence and school refusal. She presented to her GP 4 months later with history of increased body hair and irregular menstrual pattern. Her sex hormone binding globulin was low. Luteinising hormone, follicular stimulating hormone and testosterone levels were normal. Pelvic ultrasound showed both ovaries contain multiple follicles suggestive of polycystic ovary d...

Apraxia of lid opening is defined as non-paralytic motor abnormality characterized by difficulty in lid opening after lid closure.A 10-year-old presented to the ophthalmologist with history delayed opening the right eye after blinking. There was slight delay in opening of right eye after a blink during examination. There was no lid retraction. Visual acuity was normal in both eyes. Initial work up showed normal full blood count, urea and electrolytes and...

Case report: Potocki-Lupski Syndrome (PTLS) with obesityEiman Naghmuish1, Marisa Clemente1, Kamal Weerasinghe11Department of Paediatrics, Wrexham Maelor Hospital, Betsi Cadwaladr University Health Board, The UK.Introduction: Potocki-Lupski syndrome (PTLS) is a rare genetic disorder affecting 1:20.000 people worldwide, it is caused b...

Introduction: Kallmann syndrome (KS) is a developmental disorder characterised by hypogonadotropic hypogonadism and anosmia. 30% of cases are related with genetic causes, with FGFR1 mutations being identified in 10%. There are more than 140 FGFR1 gene mutations identified. We present a female patient with KS due to a FGFR1 mutation, where the presenting features included primary amenorrhoea and anosmia.Case description: ...