Searchable abstracts of presentations at key conferences in endocrinology

ea0085p68 | Diabetes 3 | BSPED2022

Insulin adjustment for local cultural event (summer marching season)

Patterson Michelle , Heffernan Emmeline

In Northern Ireland the annual marching season starts around April/May and can last until the end of September. This is a time when those children and young people with Type 1 Diabetes Mellitus who are involved in parades, need advice from the diabetes team regarding the variations in their activity levels. This can be a very delicate subject within the cultural setting, revealing their allegiance for one side of the community or the other and can be very sensitive. As a resul...

ea0085p84 | Pituitary and Growth 2 | BSPED2022

Panyiatopoulous syndrome in the setting of precocious puberty

Kendall Scott , Heffernan Emmeline

We present the case of a girl with rapidly progressing central precocious puberty, CPP. The young girl presented with consonant rapidly progressive puberty and onset of menarche. She had onset of breast budding at 7 years 11months, menarche at 8 years 2 months, with significant growth spurt. Periods continued every 3 weeks. A Brain MRI demonstrated a dysplastic lesion of her tectal plate. She underwent treatment with Gonadotropin releasing hormone analogues to suppress puberty...

ea0085p90 | Thyroid | BSPED2022

2 cases of thyroid hormone resistance

Heffernan Emmeline , Hulse Tony

Thyroid hormone resistance is a rare condition, caused by mutations of the thyroid hormone receptor beta (THRB) gene, inherited in an autosomal dominant manner. This results in decreased tissue sensitivity to thyroid hormone action, the hall mark is high FT4 levels with normal TSH levels. The clinical presentation is variable. We discuss 2 cases of thyroid hormone resistance who received Carbimazole treatment. Case 1 is an 8 year old girl, who was initially misdiagnosed as hyp...

ea0066p15 | Bone | BSPED2019

Not your typical rickets case

Beckett Rachel , Heffernan Emmeline

Introduction: Rickets was once considered to be a disease of the Victorian Era but it has become increasingly common in recent years. The most common cause is Vitamin D deficiency; however it is important to investigate for rarer causes if Vitamin D deficiency has been excluded.Case report: A healthy, Caucasian 3 year old girl was referred due to bowing of her femora, apparent since she started walking at 13 months. She was reported to be clumsy and tire...

ea0095p152 | Pituitary and Growth 2 | BSPED2023

An unusual presentation of a giant prolactinoma

McKenna Martha , Heffernan Emmeline

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 ...

ea0085oc4.1 | Oral Communications 4 | BSPED2022

Pseudohypoaldosteronism case series

McBay-Doherty Rhiannon , Heffernan Emmeline

Pseudohypoaldosteronism is a rare salt-wasting disorder of infancy characterised by hyponatraemia, hyperkalaemia and metabolic acidosis, with increased plasma renin activity and elevated aldosterone concentrations (1). We present three recent cases.Case 1: An 8 day old female infant presented with poor feeding and vomiting. She was born to consanguineous parents. She was bradycardic, hypothermic and clinically shocked. Initial bloods showed hyponatraemia...

ea0085p89 | Thyroid | BSPED2022

An unusual case of encephalopathy

McBay-Doherty Rhiannon , Heffernan Emmeline

We present an unusual case of encephalopathy. Paramedics were called to a 13 year old boy with acute confusion, agitation and incoherent speech. Subsequently he reported he had arm twitching and transient episodes of loss of consciousness for the preceding two weeks with increased thirst and lethargy over the preceding year. He had also progressed rapidly through puberty in the year prior. On presentation his parents denied any infective symptoms or likelihood of substance mis...

ea0085p19 | Diabetes 1 | BSPED2022

An unanticipated complication following diabetic ketoacidosis treatment

McBay-Doherty Rhiannon , Heffernan Emmeline , Drew Gillian

A 12 year old male presented to the Emergency Department in severe diabetic ketoacidosis (DKA) with a new diagnosis type 1 diabetes mellitus. He had tested positive for Covid a few weeks prior resulting in a reduced appetite and weight loss. He had no other past medical history. He was treated as per the BSPED guideline for DKA and remained on the protocol for 24 hours. He had normal electrolytes on admission but DKA resolution was complicated by hyperchloraemic acidosis, mild...

ea0085p93 | Thyroid | BSPED2022

Thyroid hormone resistance from misdiagnosis to successful pregnancy

Heffernan Emmeline , Wallace Helen , Graham Una

Thyroid hormone resistance is a rare condition, caused by mutations of the thyroid hormone receptor beta (THRB) gene, inherited in an autosomal dominant manner, resulting in decreased tissue sensitivity to thyroid hormone action, leading to high FT4 levels with normal TSH levels. We present a case of thyroid hormone resistance, initially misdiagnosed and treated as hyperthyroidism. An 8 year old girl was referred due to poor appetite, FT4 level was elevated (38.5 pmol/l) with ...

ea0039ep46 | Diabetes | BSPED2015

Evaluation of a novel tool to adjust insulin boluses based on continuous glucose monitoring trend arrows and insulin sensitivity (trend arrow adjustment tool) in children and adolescents with type 1 diabetes using insulin pump therapy

Heffernan Emmeline , Lawson Margaret , Bradley Brenda , Courtney Jennilea , Richardson Christine

Background: Continuous glucose monitoring (CGM) measures interstitial glucose and display trends arrows, showing the direction and rate of change in glucose. Trend arrows allow the child/youth to take action to prevent hypo- and hyperglycaemia. Effective strategies for adjusting insulin boluses for trend arrows are lacking. The JDRF CGM Study Group recommended a 10/20% increase/decrease in the insulin dose. However this formula requires a mathematical calculation with each tre...