Endocrine Abstracts

A 35-year-old patient was referred to a tertiary referral unit for further investigation of severe watery diarrhea. Infectious agents had already been excluded. Biochemistry revealed a strikingly raised serum calcium concentration of 4.09 mmol/l (NR 2.1–2.65 mmol/l), chromogranin A was grossly elevated at 293 U/l (NR 2–18 U/l) and vasoactive intestinal peptide (VIP) was also raised at 130 pg/ml (NR 10–60 pg/ml). Computed tomography (CT) of the abdomen demonstrat...

A 71-year-old male ex-publican presented to the Medical Emergency Unit suffering from lethargy, weight loss, dizziness on standing and dyspnoea on exertion. He had a past medical history of hypertension, ischaemic heart disease and alcoholic liver disease and he admitted to drinking 100 units of beer per week. His anthihypertensive medications included lisinopril and hydrochlorthiazide. On examination BMI was 35 kg/m2, blood pressure 85/65 mmHg and there was no bucc...

A 76 years old previously healthy gentleman presented with severe hypercalcaemia (5.19 mmol/l;, 2.1–2.55) and raised Parathyroid Hormone (PTH, 37 pmol/l, 1.6–7.2) after a three weeks history of confusion, diarrhoea, and weight loss. There were no other focal symptoms and family history was not significant. Other significant findings included mild recent hyponatraemia (132 mmol/l;, 136–145), acute kidney injury (urea 16.1 mmol/l, 3.2–7.4, creatinine 177 umol/l, 63–111), low vit...

Vitamin D-dependent rickets type-1 (VDDR1) is an autosomal recessive disorder characterised by onset of rickets by 2 years of age, accompanied by poor growth and hypotonia, muscle weakness, seizures, hypocalcaemia with secondary hyperparathyroidism, hypophosphataemia and normal plasma 25-hydroxyvitamin D (25(OH2)D) concentration that distinguishes VDDR1 from vitamin D deficient rickets. VDDR1 is caused by loss-of-function mutations of the 25-hydroxyvitamin D 1-alpha...

Case history: Idiopathic Infantile Hypercalcaemia (IIH) classically presents in the first year of life, usually resolves by 1 year of age and is due to mutations in 1,25-dihydroxyvitamin D2 24-hydroxylase (CYP24A1) or, rarely, sodium-phosphate cotransporter-2A (SLC34A1). We report a case of IIH in a Caucasian female, who was born to non-consanguineous parents, with hypercalcaemia, hypercalciuria and associated complications persisting into adulthoo...

Hypoparathyroidism may occur as: a hereditary syndromic disorder (e.g. Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED), Hypoparathyroidism Sensorineural Deafness and Renal Disease (HDR), Autosomal Dominant Hypoparathyroidism type 1 (ADH1), or ADH type 2 (ADH2), which are due to mutations of autoimmune regulator (AIRE), GATA binding protein 3 (GATA3), calcium-sensing receptor (CASR) and G-protein sub...

Hypoparathyroidism may occur as: a hereditary syndromic disorder (e.g. Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED), Hypoparathyroidism Sensorineural Deafness and Renal Disease (HDR), Autosomal Dominant Hypoparathyroidism type 1 (ADH1), or ADH type 2 (ADH2), which are due to mutations of autoimmune regulator (AIRE), GATA binding protein 3 (GATA3), calcium-sensing receptor (CASR) and G-protein sub...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the combined occurrence of parathyroid tumours, and neuroendocrine tumours (NETs) of the pancreas and pituitary. Reliable biomarkers, ideally in plasma or serum, for the early detection and recurrence of MEN-1 associated tumours, and especially pancreatic NETs are required, and we explored the potential use of microRNAS (miRNAs), which are small non-coding RNAs that bind target mRNAs ...

Idiopathic infantile hypercalcaemia (IHH) is an autosomal recessive disorder typically presenting in the first few months of life with failure to thrive, vomiting, dehydration, and nephrocalcinosis with hypercalcaemia and low or undetectable parathyroid hormone (PTH) concentrations. IHH is caused by loss-of-function mutations of the cytochrome P450 family 24 subfamily A member 1 (CYP24A1) gene that encodes the 514 amino acid protein 1,25-dihydroxyvitamin D3...

Case history: Vitamin D-dependent rickets type 2 (VDDR2) is an autosomal recessive condition caused by resistance to 1,25(OH)2D3, either through vitamin D receptor (VDR) mutations (type A) or abnormal expression of interfering proteins (type B), resulting in hypocalcaemia despite elevated plasma 1,25(OH)2D3 and parathyroid hormone concentrations. We report a proband, born to Caucasian non-consanguineous parents, who presente...