Endocrine Abstracts

A 35 year old woman presented with severe bone pain, body aches, progressive deformities of chest, skull and swelling of hands for two years. Past history included bilateral total hip replacement for fracture of neck of femur one year back. She was normotensive and normo-glycemic. Her dietary consumption of calcium and vitamin D and sun-exposure was adequate. Investigation revealed haemoglobin 5.4gram per deciliter. Serum calcium and serum iPTH levels were elevated at 3.6milim...

Familial Hypocalcuric Hypercalcaemia (FHH) is an autosomal dominant condition associated with inactivating mutations of the human calcium sensing receptor (CaSR) gene (heterozygotes). Neonatal Severe Primary Hyperparathyroidism (NSHPT) affects infants who inherit two such inactivating copies (homozygotes). NSHPT is frequently fatal without parathyroidectomy (PTx).Between 1984 and 2003 we have diagnosed and treated seven children (4M, 3F) with NSHPT. All ...

Introduction: Postoperative hypoparathyroidism is a rare, but complex endocrine disorder. The purpose of this study was to evaluate the symptoms, signs and sequelae of the disease in a major patient group in the post-Chernobyl era using a new questionnaire instrument.Methods: A random sample of 25 patients with symptomatic permanent hypoparathyroidism was chosen out of a group of 158. The patients underwent physical examination, determination of parathyr...

A 91year-old woman was admitted after collapsing at home. She was an ex-smoker with history of chronic obstructive airway disease (COAD), atrial fibrillation , osteoporosis and colonic polyps. On examination, she had clinical signs of chest infection with normal blood pressure and no significant postural drop .Blood glucose was 2.6 millimoles pre litre on admission. Further serial plasma glucose estimations revealed persistant fasting hypoglycaemia( 1.9 to 2.6 millimoles per l...

The G protein-coupled calcium sensing receptor (CaSR), widely expressed on the surface of parathyroid chief cells and in the kidney, plays a central role in calcium homeostasis. Activating mutations of CaSR gene are responsible for autosomal dominant hypocalcemia (ADH), a rare disorder caused by hypocalcemia, hyperphosphatemia, hypercalciuria and inadequately low concentration of parathyroid hormone (PTH). In this study, we report a family affected by ADH. The proband...

Introduction: Multiple endocrine neoplasia type 1 (MEN 1) is associated with neoplasia and hyperfunction of the parathyroid and pituitary glands, pancreatic islet cells, and neuroendocrine cells of the gut. Many authors advocate routine subtotal or total parathyroidectomy and autotransplantation for these patients. Here we demostrate negative MEN1 and MEN4 gene mutation analysis in a case with prolactinoma and a large parathyroid adenoma that could not be localized with preope...

Traditionally, patients diagnosed with primary hyperparathyroidism present with mild hypercalcaemia and tend to be asymptomatic. Symptomatic patients tend to have severely high calcium and exhibit the classic ’bones, stones, abdominal moans and psychic groans.’ We present a case of a 92-year-old Caucasian gentleman presenting with recurrent falls, postural hypotension and trauma to head and shoulder. X-ray imaging showed small non-specific lucencies in the cervical a...

Background: Hypercalcemia is not uncommon in granulomatous disorders, especially sarcoidosis and tuberculosis. Prevalence in sarcoidosis may be 2-63%, depending on the population studied. Uncontrolled synthesis of 1,25-dihydroxyvitamin-D by the macrophages is the underlying mechanism. Here we present a case of hypercalcemia, initially thought to be due to hypervitaminosis-D but later diagnosed to have sarcoidosis.Case Presentation: This 49-year-old gentl...

Background: Parathyroid carcinoma (PC) is rare, usually presenting with hyperparathyroidism and severe hypercalcemia. A standardized diagnostic, prognostic and therapeutic approach has not been provided yet and TNM staging algorithm is not universally accepted. Surgery is the first-choice treatment and is the only effective therapy to control hypercalcaemia. Chemo- or radio-therapy, local treatments or novel drugs should be reserved to selected cases.Cas...

The documentation of goiter as a swollen neck is well known in the history before its medical description. Artists depicted what they saw in humans, the swollen human neck was the norm in many areas with endemic goiter in old Egypt, Greece, South America, and mountainous areas in central Italy and Switzerland. Sculptures from the ancient civilizations clearly demonstrated endemic goiters and cretinism in areas of environmental iodine deficiency. The engraved stones in old Egyp...