Endocrine Abstracts

Case presentations: Case 1: The index case is a 10 year old girl who presented episodic symptoms of feeling unwell, unexplained headache, seizure, vomiting and dehydration over a period of 8 months. She was subsequently found to have systemic hypertension which led to further investigations revealing raised plasma noradrenaline of 32 and 103.7 (NR 0–5 nmol/). US abdomen suggested bilateral pheochromocytoma but an MIBG showed unilateral left sided increased uptake. She und...

Background: The 1 mg overnight dexamethasone suppression test (ONDST) is recommended for the differential diagnosis of Cushing’s syndrome and the investigation of adrenal incidentalomas. However, diagnostic performance of the test relies on accurate methods to quantitate cortisol in serum. Although the variable performance of serum cortisol immunoassays has been well-documented, little has been published on their performance following the ONDST.Aims...

Sex hormone binding globulin (SHBG) is a glycoprotein which binds hormones such as testosterone. Around 97% of circulating testosterone is bound to SHBG and is therefore biologically unavailable; approximately 2–3% of testosterone is free or loosely bound to proteins such as albumin, and is biologically active, or bioavailable. Free testosterone is very technically challenging to quantify; in order to circumvent this problem, equations are used...

Sex hormone binding globulin (SHBG) is a glycoprotein which binds hormones such as testosterone. Around 97% of circulating testosterone is bound to SHBG and is therefore biologically unavailable; approximately 2–3% of testosterone is free or loosely bound to proteins such as albumin, and is biologically active, or bioavailable. Free testosterone is very technically challenging to quantify; in order to circumvent this problem, equations are used...

Background: Fractures are reported in 1/3 of children who have been abused. The Royal College of Paediatrics and Child Health (RCPCH) recommends that assessment of fractures where there is suspicion of physical abuse should include bone biochemistry: calcium (Ca), phosphate (Ph), alkaline phosphatase (ALP), parathyroid hormone (PTH) and Vitamin D (VitD).Objectives: To describe the pattern of bone biochemistry in children with fractures when non-accidenta...

The prevalence of obesity and its associated metabolic diseases are increasing, but current treatments are ineffective or impractical. Understanding how the gut–brain axis senses nutrients to regulate appetite and glucose homeostasis may identify new drug targets and treatments. The G protein-coupled receptor 119 (GPR119) has several endogenous lipid ligands and has been proposed to act as a nutrient sensor in the gastrointestinal tract. GPR119 is expressed on enteroendoc...

Coupling the release of pituitary hormones to the developmental stage of the oocyte is essential for female fertility. It requires estrogen to have simultaneous positive and negative feedback effects on spatially-distinct regions of the hypothalamus. However, the mechanistic basis for this differential effect is not known. We have found that negative-feedback is mediated by the nuclear receptor Dax1, which is present in the arcuate hypothalamic nucleus and serves as a ligand-d...

Background: Accurate measurement of serum cortisol is essential in the investigation of the HPA axis. It has been documented that routine immunoassays are liable to both under- and over-recovery leading to inaccurate results and subsequent inappropriate investigations. This study seeks to provide an up-to-date assessment of the accuracy of the major immunoassay platforms and compares results to a liquid chromatography–tandem mass spectrometry (LC–MS/MS) candidate ref...

Introduction: Pituitary gigantism is a rare but clinically significant paediatric condition. Transphenoidal surgery is the treatment of choice, however medical treatment is often considered as adjuvant therapy.Case report: A 10.6 year old boy presented with tall stature. With hindsight he was noticeably tall from age 5 years. At 10 years his height velocity was 12 cm/year, prompting referral and further investigation. His height was 178.7 cm (+5.79 sds a...

Background: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy, resulting in death at a young age. Corticosteroids improve muscle function and slow disease progression. However long-term steroid therapy is a significant risk factor for osteoporosis.Aim: To assess the effect of oral bisphosphonate (risedronate) treatment on bone mineral density in a cohort of steroid-treated children with DMD.Method: Annual bone...