Endocrine Abstracts

Background: Primary Hyperparathyroidism (PHPT) is a common endocrine disorder that is characterized by hypercalcaemia and elevated or inappropriately normal serum levels of parathyroid hormone. Most often, the presentation of PHPT is asymptomatic. PHPT can manifest with osteoporosis and hypercalciuria as well as with vertebral fractures and nephrolithiasis, both of which can be asymptomatic. Our aim in this study; to determine the frequency of kidney stones in patients operate...

The kidney is an important target of primary hyperparathyroidism (PHPT). The 4th International Workshop for the management of Asymptomatic PHPT included the presence of hypercalciuria (24-h urinary calcium > 400 mg/day) and increased stone risk by biochemical stone risk profile as criteria for surgery. Increased stone risk profile was defined as at least one between ßCaOx>4 and ßHPO4>2, as defined in literature in a different study population. The aim of ...

Primary Hyperparathyroidism is known to present with protean manifestations leading to misdiagnosis in the initial stages of the disease. In the developing world, most of the cases are detected late when they manifest with severe symptomatic metabolic bone disease or renal stones. Distal Renal Tubular Acidosis is a rare complication of primary hyperparathyroidism and should be looked for, in cases presenting with nephrolithiasis. Nuclear scintigraphy accurately localizes the t...

Introduction: Nephrolithiasis and osteoporosis are more common in people with primary hyperparathyroidism (PHPT), although the clinical factors associated with this risk are not well characterised. Recent evidence has suggested parathyroid hormone concentration, but not calcium, is associated with mortality in PHPT.Methods: Retrospective analysis of all patients presenting to the Edinburgh Centre for Endocrinology & Diabetes wi...

Introduction: Nephrolithiasis and osteoporosis are more common in people with primary hyperparathyroidism (PHPT), although the clinical factors associated with this risk are not well characterised. Recent evidence has suggested parathyroid hormone concentration, but not calcium, is associated with mortality in PHPT.Methods: Retrospective analysis of all patients presenting to the Edinburgh Centre for Endocrinology & Diabetes wi...

A 27-year old Caucasian woman was referred to the Endocrine Bone Clinic after investigations for general malaise revealed hypercalaemia and elevated parathyroid hormone levels. She had no history of constipation, abdominal pain, bone pain, or other related symptoms. She had no history of renal stones or fractures and no change in weight. Her past medical history included asthma and she took a salbutamol inhaler as required. She had no family history of endocrine pathology. Gen...

Introduction: Calcium metabolism during pregnancy changes significantly but ionized calcium level remains normal. During pregnancy, there is two-fold increase in intestinal calcium absorption mediated by increase in 1,25-dihydroxyvitamin D. Hypercalcemia in pregnancy is uncommon and most reported cases are primary hyperparathyroidism.Case report: A 18-year-old 10 weeks’ pregnant African American female presented to hospital with epigastric pain, nau...

Introduction: Primary hyperparathyroidism (PPTH) is a common referral to endocrine clinics with a clinical spectrum ranging from an asymptomatic state to a symptomatic disorder with or without end organ damage. We audited our management against the NIH guidelines which are endorsed by the Endocrine Society.Methods: There is no outpatient coding system to correctly identify all patients with primary hyperparathyroidism. We included patient on radiology da...

Aim: The aim of this audit was to evaluate our adherence to current recommendations by Third International Workshop on the Management of Asymptomatic Primary Hyperthyroidism.Method: We audited 50 cases from our database of patients with PHPT diagnosed between 2007 and 2012.Results: 21/50 (42%) were referred for surgery with 19/21 operated. All referred patients had SESTA MIBI preoperative localisation scan. 19/21 had USS in additio...

Introduction: MEN-1 is a rare autosomal dominant familial cancer syndrome characterized by involvement of parathyroid glands, enteropancreatic endocrine tissues and anterior pituitary gland. This disease is linked to germline mutations in the MEN1 gene (more than 460 described), whose identification allows the familial genetic counselling. Here we describe a novel germinal mutation in exon 10 of the MEN1 gene identified in an Italian family.Case Report: ...