Endocrine Abstracts

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...

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...

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...

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...

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 ...

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...

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...

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...

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 ...

Introduction: We present the case of a 14-year-old boy with refractory hypercalcaemia secondary to Denosumab cessation. This case is unique due to his extensive treatment course and relapse during therapy.Background: Denosumab is a monoclonal antibody used in the treatment of osteoporosis, skeletal metastasis, and giant cell tumour of bone. In skeletally immature patients, studies have proven its effectiveness in suppressing bone resorption and alleviati...