Endocrine Abstracts

Background: De Quervain’s thyroiditis is a transient inflammatory thyroid disorder, characterized by neck pain, a tender goiter and a triphasic clinical course of thyroid function evolution.Clinical Case: A 21-year-old male presented to the emergency department with 5 days of fever, agitation, palpitations, diarrhea and cough. He had a significant past medical history of aplastic anemia, in remission after an allogeneic stem cell transplant a year a...

Tumour-Induced Osteomalacia (TIO) is a rare paraneoplastic syndrome that is often underdiagnosed given its non-specific manifestations. A 64-year-old Chinese male presented with chest discomfort and generalized weakness. He was treated for symptomatic iron deficiency anaemia, with two units of blood transfusion given his low haemoglobin of 6.1 g/dl; no intravenous iron replacement was given. Concurrently, laboratory results revealed a low phosphate level of 0.4 mmol/l [referen...

Background: Severe hypercortisolism from ectopic adrenocorticotropic (ACTH) secretion may be life-threatening. The lung is the most common site of ACTH secreting tumours, ranging from bronchial carcinoids to small cell lung carcinoma. Olfactory neuroblastomas (ONB) are rare malignant neuroectodermal tumours. They show neuroendocrine differentiation and may exhibit a wide variety of paraneoplastic syndromes including ectopic ACTH secretion (EAS). We report a case of EAS from a ...

Background: Congenital adrenal hyperplasia, (CAH) is a common autosomal recessive condition, 95% of which is attributable to mutations in the 21-hydroxylase (CYP21) gene. There is a wide range of clinical features and genotype phenotype correlations for common mutations are well described.Case: EG presented to the endocrine clinic at the age of 3.5 years with pubarche of 6 months duration and Tanner staging of PH3, B1and clitoromegaly (Prader stage 1) Ur...

Background: Type 2 Diabetes Mellitus (T2DM) is increasing in prevalence in children and young people (CYP) in the United Kingdom. There is a paucity of evidence about CYP opinions of T2DM care and how it should be tailored to meet their needs. We have analysed the Parent and Patient Reported Experience Measures (PREM) survey responses specifically from patients with T2DM and their families to inform care.Methods: The National Paediatric Diabetes Audit (N...

Introduction: Aurantiasis cutis is an asymptomatic condition characterised by yellow discolouration of the skin and is caused by high levels of β-carotene. Beta carotenaemia has frequently been associated with the development of menstrual disturbances in women but no causal link has been established.Case report: We herein present a case of a 15 year old Caucasian girl (otherwise well, BMI 24) who presented with aurantiasis cutis together with a four...

The European Academy of Andrology (EAA) published the first consensus guideline on KS in 2021 to standardise the care provided to patients with Klinefelter Syndrome (KS) in various developmental stages. We conducted an online national survey advertised in the British Society of Paediatric Endocrinology and Diabetes newsletter (BSPED) to evaluate clinical care provided to children and young people (CYP) with KS. The survey ran over a period of 4 months (January-April 2023). We ...

Background: Aromatase inhibitors block the aromatization of androgens to oestrogen. They are used off-label to delay bone maturation where bone age (BA) is advanced secondary to androgen excess. Side effects include hair loss, headache, decreased appetite, bone pain, drowsiness, and osteoporosis. There is limited data on Anastrozole’s safety in paediatrics. We report our experience (Anastrozole 1 mg OD) in 4 pre-pubertal boys with advanced BA.<p class...

Salt solutions are routinely used in salt losing conditions like congenital adrenal hyperplasia, pseudohypoaldosteronism, cystic fibrosis and polyuric salt wasting kidney disease. Problems with administration (of a liquid to an increasingly solid diet), compliance and the behavioural impact of altering food preferences abound.We describe the case of a 2-year-old boy DA with aldosterone synthetase deficiency who is currently on fludrocortisone and sodium ...

Background: Over the last two decades, supported by two metanalyses, the low-dose Synacthen Test (LDST) has gained in popularity, with many believing it to be more sensitive than the supra-physiological Standard (250 microgram) Short Synacthen Test (SSST). The literature reveals lack of consensus about its specific clinical applications, what is considered “low-dose” and how that dose is made up.Methods: To ascertain current UK practice,...