Endocrine Abstracts

Introduction: Familial Hypocalciuric Hypercalcemia (FHH) is a benign autosomal dominant condition caused by an inactivating mutation on the gene coding for the Calcium Sensing Receptor (CASR). CASR plays a role in regulating parathyroid secretion and calcium metabolism. The majority of adults with FHH are asymptomatic. This is a case of three young brothers whose genetic tests shows two mutations in each of their CASR gene leading to hypercalcemia and varying symptoms.<p c...

Introduction: Empty sella syndrome is a condition in which sella turcica is partially or completely filled with CSF resulting in a displacement of normal pituitary gland. Primary empty sella is due to inherent weakness of diaphragm sella or to an increase in intracranial pressure which promotes herniation of arachnoid membranes in to pituitary fossa. More common in middle aged obese female and headache is the most common presenting symptom. It may be associated with one or mor...

A 46 year old female presented to orthopaedics with a painful swelling at the base of the middle finger, which was gradually increasing in size. Ultrasound and x-ray showed a highly vascular irregular mass with bony involvement of the third metacarpal. Initial suspicions were of an enchondroma. Following an MRI scan, the orthopaedic team proceeded to biopsy the lesion. The histology suggested a giant cell tumour. Curretage of the lesion, with bone grafting was performed and fu...

A sixty-four year old man presented for investigation of mild hypercalcaemia (2.68 mmol/L) incidentally discovered during preoperative workup for elective removal of a testicular cyst. He had no family history of renal stones. His younger brother had undergone a parathyroidectomy at the age of 60. His father died in a road traffic accident aged 54. His mother was 84 and had no history of endocrine disease. Urine calcium:creatinine excretion ratio was 0.0207, excluding familial...

Primary hyperparathyroidism (PHPT) is not uncommon. It has varied presentations ranging from asymptomatic disease to the classical ‘stones, groans, and moans’. The incidence and prevalence of frank diabetes mellitus (DM) is significantly increased in patients with hypercalcaemia. It may be difficult to differentiate symptoms of hypercalcaemia from DM. We present a case of improved glycaemia in a patient with DM following removal of parathyroid adenoma.<p class="a...

A 63-year-old Caucasian female was admitted with a 12-month history of exertional breathlessness, anxiety attacks, syncopal episodes, diarrhoea, fatigue, reduced appetite, two stones weight loss, and dry facial and truncal flushing. Investigations revealed raised Urine 5-HIAA of 116 (RR <50 μmol/24 h) and raised Chromogranin A of 48 (RR <6 nmol/l). CT scan revealed an extensive soft tissue mass encasing the upper abdominal aorta, compressing the inferior vena cava...

A 32-year-old women initially presented with recurrent kidney stones and was found to have nephrocalcinosis. She was found to normocalcaemic but hypercalciuric, with a plasma ionized calcium at upper-limit of normal and a PTH in lower normal range. One year later, during the first trimester of a pregnancy, she presented with severe hypercalcaemia, hypercalciuria and suppression of PTH. Extensive investigations for causes of hypercalcaemia excluded hyperparathyroidism, other en...

Background: Histoplasmosis is an opportunistic fungal infection that commonly affects immunocompromised individuals. Histoplasmosis may be asymptomatic or may present with progressive systemic manifestations (pulmonary or disseminated). We present a case of a 76 year old immunocompetent man presented to hospital with 8 weeks history of general malaise and lethargy, intermittent night sweats, a productive cough, weight loss of 2.5 stones in two months and low grade fever. He ha...

Hypoparathyroidism, a rare endocrine disorder of insufficient parathyroid hormone, leads to hypocalcemia and often hyperphosphatemia. The PARADOX study assessed the clinical and personal disease impact from the affected patients’ perspective.Patients ≥18 years and diagnosed ≥6 months ago completed a non-validated, self-reported, web-based survey.Three hundred and seventy-four US adults (mean age, 49 years; women, 8...

Introduction: Idiopathic hypercalciuria is a risk factor for nephrolithiasis. Both renal stones and hypercalciuria are often associated with lower bone mineral density (BMD), but the relationship between these modifications is not completely understood. We aimed to evaluate some metabolic particularities possibly related to relapsing nephrolithiasis in young male patients.Methods: We performed a cross-sectional study including a group of 30 young male pa...