Endocrine Abstracts

Background: Primary hyperparathyroidism is a relatively common endocrine disorder. Familial hypocalciuric hypercalcaemia is an important differential diagnosis but is much less prevalent. We examine a case of hypercalcaemia where there was some initial diagnostic uncertainty.Case report: a 55-year-old lady was referred from primary care with mild hypercalcaemia, low mood, constipation and urinary frequency. She had a previous history of renal stones at t...

Introduction: Primary hyperparathyroidism (PHPT) is associated with adverse effects especially on the bones and kidney. While nowadays it is mostly diagnosed at an asymptomatic stage, patients with overt involvement of the target organs at the time of diagnosis are still encountered.Aim: To explore the frequency of disease complications already present at the time of diagnosis in a cohort of patients with sporadic PHPT who meet the current surgical guide...

A 33 year-old man was referred to the endocrine bone clinic following presentation with a 4 mm kidney stone and hypercalcaemia. Apart from mild fatigue, he had no other hypercalcaemic or concerning symptoms. He was not on any medications or supplements. He had a positive family history for kidney stones and reported that his grandmother had been noted to have hypercalcaemia in the past. There was significant consanguinity in his family. Examination was entirely normal while bl...

Introduction: Sarcoidosis is a multisystem granulomatous disorder. It commonly causes mild hypercalcemia in up to 10–20% of the cases and renal involvement can be a feature. Presentation with severe symptomatic hypercalcaemia (>3.5 mmol/l) and acute kidney injury is rare. We present an interesting case.Case: A 58 year old female was referred to the emergency department by her general practitioner with a one month history of polyuria, generalised wea...

Background: ‘H’ syndrome is a rare autosomal recessive disorder characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, hypogonadism, hyperglycaemia (insulin-dependent diabetes), hallux valgus and low height (short stature) and systemic inflammation. Caused by mutations in SLC29A3 gene located on chromosome 10q23 which encodes the human equilibrative nucleoside transporter 3 (hENT3). We report this case to highlight the rarity of the Syn...

Primary hyperparathyroidism (PHPT) is a common endocrine disorder that is characterized by hypercalcaemia and elevated or inappropriately normal levels of parathyroid hormone (PTH), which is excessively secreted from one or more parathyroid glands. Classical disease is nowadays only seldom seen due to widespread biochemical screening. Most patients are asymptomatic and have more subtle, but clinically important skeletal and renal involvement. A normocalcaemic variant of the di...

Pancreatic neuroendocrine tumors constitute a disease with steadily increasing prevalence worldwide in part owing to the increased detection of early stage disease. Here we present the case of a 49 year old male patient, who was admitted with clinical, laboratory and CT features of acute pancreatitis. A clear cause for the pancreatitis could not be detected. Excessive alcohol intake was reliably denied, and the patient did not take any drugs. Gallbladder and bile ducts were in...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder often diagnosed in asymptomatic individuals on routine biochemical screening, which, if left untreated, can have devastating consequences. The main target organs of PTH are the skeletal system and the kidneys. Asymptomatic hypercalcaemia in young adults is uncommon, and patients who remain asymptomatic should be monitored for the development of complications that justify surgery.<p class="abste...

Although primary hyperparathyroidism (PHPT) is usually cured by surgery, some individuals are unable to undergo parathyroidectomy and are refractory to standard calcium lowering medical therapy. In such cases, targeted therapy with cinacalcet may be useful.The aim of this study was to access the short-term efficacy of cinacalcet in lowering calcium (Ca2+) levels in patients with PHPT unable to undergo parathyroidectomy and refractory to standa...

Objective: Primary hyperparathyroidism (PHPT) is one of the most common endocrine disorders, with a female to male ratio of 3:1. Currently most patients with PHPT are asymptomatic. However, data about the gender impact on the clinical presentation of PHPT are lacking.Methods: We evaluated the difference in symptoms and biochemical parameters between men and women with PHPT in a single center series of 417 patients.Results: Male PHP...