Endocrine Abstracts

Background: 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) is characterised by cortisol deficiency, androgen excess, varying degrees of virilisation and salt-wasting. CAH management involves replacement therapy with hydrocortisone, and, often, fludrocortisone. High levels of androgens cause the advancement of bone age (BA) with the potential to increase bone mineralisation. Hydrocortisone therapy on the contrary can contribute to reducing bone mineralisation. P...

Background: The glucagon tolerance test (GTT) is used to diagnose growth hormone deficiency (GHD) in younger children or in patients where the insulin tolerance test is contraindicated. We assessed GTTs carried out over five years in a tertiary paediatric centre to assess growth hormone (GH) and cortisol axes. The aim was to assess at which time points the GH peak was observed, and assess whether any predictive value is gained from demographics or IGF-1....

Introduction: Tolvaptan, a selective vasopressin 2 receptor antagonist is proving beneficial in managing hyponatremia secondary to SIADH.Case report: A 75-year-old male with history of traumatic SAH developed hyponatremia secondary to SIADH. He had multiple admissions with symptomatic hyponatremia. His sodium level kept dropping despite putting on fluid restriction and trial of sodium chloride tablets. He was started on Tolvaptan 7.5 once weekly initiall...

Introduction: Type 1 diabetes (T1D) is a lifelong condition affecting over 29 000 children in the United Kingdom, the majority of whom are in full time education. Both hypoglycaemia and hyperglycaemia have been shown to impact the young person’s overall school performance and learning capacity. During exams, children and young people (CYP) with T1D have the additional stress of managing their diabetes appropriately, and therefore require special provisions. Currently, the...

Introduction: Diabetes mellitus is the commonest cause of chronic kidney disease leading to end-stage renal failure (ESRF). Fluid replacement is one of the cornerstone treatments of DKA, however anuric dialysis patients are at risk of fluid overload. Information for managing DKA in haemodialysis patients is relatively sparse.Case report: A 76-year-old gentleman with type 1 diabetes was admitted with drowsiness. He has twice weekly dialysis and on 700 ml/...

Maturity Onset Diabetes of the Young (MODY) accounts for upto 2% of all patients with diabetes. Hepatocyte Nuclear Factor 1 alpha (HNF1-A) MODY is the most common subtype accounting for 30–70% of all MODY cases. Typically, it presents in young adults below the age of 45, frequently < 25 with autosomal dominant family history of diabetes, absence of autoimmune markers and insulin resistance and c-peptide positivity.DKA is a rare complication of M...

Hypercalcaemia is a recognised feature of hyperthyroidism due to accelerated bone turnover caused by thyroid hormone. When present, it is generally mild, usually with levels < 3.00 mmol/l. We present a case of a 19 year old male with thyrotoxicosis, who had severe hypercalcaemia and was also found to have possible co-existent adrenal insufficiency at the same time.He presented with a 4 month history of weight loss, anxiety, tremors and palpitations. ...

A 64 year old lady was admitted with a 2 day history of feeling generally unwell. Her relatives also reported new onset confusion over these 2 days. Her bloods showed raised inflammatory markers (CRP 110.3 mg/l, WCC 18.2×109/l) hypoalbuminemia (17 g/l), bilirubinemia (55 μmol/l) and a raised alkaline phosphatase (917 IU/l). She had recently been diagnosed with carcinoid syndrome; primary tumour situated in the terminal ileum with liver metastasis and had b...

Polycystic ovary syndrome (PCOS) is the most common endocrine condition affecting women and is associated with hyperinsulinaemia and hyperandrogenism. Obesity is present in at least 30% of cases and plays a vital role in the development and maintenance of PCOS as well as affecting the severity of the clinical and endocrine features. Significant improvements in symptoms of androgen excess and ovulatory function are seen with even a modest weight loss of 5% in women with PCOS. M...

Loss- and gain-of-function mutations of the calcium-sensing receptor (CaSR) cause familial hypocalciuric hypercalcaemia (FHH) and autosomal dominant hypocalcaemia (ADH), respectively. The CaSR is a homodimeric receptor that has a 612 amino acid extracellular domain (ECD), which binds extracellular calcium (Ca2+e) and mediates dimer interactions upon ligand binding. The ECD consists of lobes 1 and 2, and a cysteine-rich domain (CRD). To elucidate the struc...