Recombinant human parathyroid hormone therapy (1-34) in an adult patient with a gain-of-function mutation in the calcium-sensing receptor-a case report.

OBJECTIVE: To describe a case of hypocalcemia in a patient with a gain-of-function mutation in the calcium-sensing receptor that was undetected until adulthood and successfully treated with recombinant parathyroid hormone. METHODS: The clinical findings, laboratory data, and a review of the pertinent literature are presented. RESULTS: A 55-year-old woman was hospitalized and seen by the endocrinology consult service for hypocalcemia that was refractory to repeated doses of intravenous calcium gluconate. She expressed concern about chronic leg muscle cramps and paresthesias of the lips and fingertips. In addition, she had no history of neck surgery, neck irradiation, or any autoimmune disease. She was a well-appearing female with no dysmorphic features or skin changes. Laboratory tests revealed hypocalcemia, hyperphosphatemia, hypomagnesemia, and hypovitaminosis D. Her parathyroid hormone concentration (PTH) was low at 14.2 pg/mL. Her PTH and calcium concentrations remained low despite repletion of magnesium and treatment with calcitriol and oral calcium replacement. A 24-hour collection for urinary calcium showed inappropriate hypercalciuria. Medical records showed her hypocalcemia to be chronic. Additionally, several family members had also complained of muscle cramps. A congenital cause of her hypoparathyroidism was considered, and genetic testing confirmed heterozygosity for a gain-of-function mutation in the calcium-sensing receptor gene associated with autosomal dominant familial isolated hypoparathyroidism (ADH). Treatment with subcutaneous recombinant human parathyroid hormone teriparatide (rhPTH [1-34]) 20 mcg twice daily for three days normalized her calcium and phosphorus concentrations. CONCLUSION: rhPTH (1-34) is an effective treatment for patients with hypoparathyroidism due to gain-of-function mutations in the calcium-sensing receptor. ADH can be insidious in presentation and the diagnosis can be missed unless there is a high index of suspicion.

Update: metabolic and cardiovascular consequences of bariatric surgery.

Obesity is a disease state with polygenic inheritance, the phenotypic penetrance of which has been greatly expanded by the attributes of modern civilization. More than two-thirds of obese persons have comorbidities, many of which are characteristic of cardiometabolic risk syndrome (CMRS) in addition to other life-quality-reducing complaints. The CMRS is associated with increased cardiovascular events and mortality. Individuals with a body mass index greater than 35 infrequently achieve or maintain weight loss adequate to resolve these metabolic and anatomic issues by lifestyle or pharmacologic strategies. Data suggest that some of these patients may be better served by bariatric surgery.

Orbital MALT lymphoma in a patient with Graves' ophthalmopathy: a unique observation.

A 57-year-old woman with a six-year history of Graves' Disease with ophthalmopathy developed unilateral periorbital swelling. CT scan suggested a lacrimal mass. Biopsy revealed MALT lymphoma. Evaluation for other sites of lymphoma revealed no other evidence of disease. She was treated with radiation therapy only with complete disappearance of disease. This is the first known case of MALT lymphoma arising in Graves' ophthalmopathy.

Metabolic implications of obesity: before and after gastric bypass.

Obesity is recognized as an inherited disease state, and attributes of modern civilization have enhanced its phenotypic penetrance greatly. Two thirds or more of obese persons suffer comorbidities,many of which are characteristic of (dys)metabolic syndrome of insulin resistance. Unfortunately patients with body mass index over 35 infrequently can achieve or maintain weight loss adequate to resolve these metabolic (and anatomic) issues by lifestyle or pharmacologic strategies and are served better by gastric bypass, in spite of its attendant risks, both surgical and nutritional. This article evaluates the metabolic consequences of obesity and highlights which of these are amenable to correction with weight reduction achieved by gastric bypass.