Searchable abstracts of presentations at key conferences in endocrinology

ea0085p60 | Diabetes 2 | BSPED2022

A case of possible diabetes in remission in a 15 year old girl with significant deliberate weight loss

Clarke Stuart , Weerasinghe Kamal

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...

ea0039ep124 | Thyroid | BSPED2015

Hypothyroidism presenting as child psychosis. A rare finding.

Alalade Solabomi , Weerasinghe Kamal

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...

ea0039ep123 | Thyroid | BSPED2015

Apraxia of eyelid and hypothyroidism

Alalade Solabomi , Weerasinghe Kamal , Shankar J , Chandnar A

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...

ea0095p68 | Obesity 1 | BSPED2023

Case report: Potocki-lupski syndrome (PTLS) with obesity

Naghmuish Eiman , Clemente Marisa , Weerasinghe Kamal

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...

ea0095p129 | Gonadal, DSD and Reproduction 2 | BSPED2023

Kallmann syndrome: A FGFR1 mutation

Clemente Marisa , Naghmuish Eiman , Weerasinghe Kamal

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: ...