Diphtheria Toxin- and GFP-Based Mouse Models of Acquired Hypoparathyroidism and Treatment With a Long-Acting Parathyroid Hormone Analog.

Hypoparathyroidism (HP) arises most commonly from parathyroid (PT) gland damage associated with neck surgery, and is typically treated with oral calcium and active vitamin D. Such treatment effectively increases levels of serum calcium (sCa), but also brings risk of hypercalciuria and renal damage. There is thus considerable interest in using PTH or PTH analogs to treat HP.

Metastatic pancreatic neuroendocrine tumor with ectopic adrenocorticotropic hormone production.

We describe a 71-year-old man who presented with abdominal pain, lower-extremity edema, recent unintentional weight loss, hypertension, hyperglycemia, hypokalemia, and metabolic alkalosis. Serum cortisol levels remained elevated after overnight high-dose dexamethasone suppression. Magnetic resonance imaging revealed a small mass in the head of the pancreas with scattered liver metastases.

Long-term follow-up of patients with hypoparathyroidism.

Context: Despite tremendous interest in hypoparathyroidism, large cohort studies describing typical treatment patterns, laboratory parameters, and rates of complications are lacking.

Objective: Our objective was to characterize the course of disease in a large cohort of hypoparathyroid patients.

Design And Setting: We conducted a chart review of patients with permanent hypoparathyroidism identified via a clinical patient data registry.

An unusual case of primary hyperparathyroidism with profoundly elevated parathyroid hormone levels.

Objective: To report the case of a man who presented with profoundly elevated parathyroid hormone levels in the setting of hypercalcemia, a palpable neck mass, renal disease, and metabolic bone disease.

Methods: We describe the clinical, imaging, and laboratory findings of the patient, including results from genetic testing of the CDC73 gene (HRPT2), and review the relevant literature.

Results: A 28-year-old man with a history of childhood abdominal neuroblastoma treated with chemotherapy and field radiation therapy presented with a 2-week history of persistent left scapular pain and swelling.

Analysis of CYP27B1, encoding 25-hydroxyvitamin D-1alpha-hydroxylase, as a candidate tumor suppressor gene in primary and severe secondary/tertiary hyperparathyroidism.

CYP27B1, encoding 25-hydroxyvitamin D-1alpha-hydroxylase, converts 25-hydroxyvitamin D to its active form, 1,25-dihydroxyvitamin D, and is expressed primarily in the kidney but also in nontraditional sites including the parathyroid glands. Whereas the role of locally produced 1,25-dihydroxyvitamin D is not yet clear, it is possible that it contributes importantly to vitamin D-mediated inhibition of parathyroid cell growth, so CYP27B1 can be considered a candidate parathyroid tumor suppressor gene in that its acquired inactivation in a parathyroid cell could confer a tumorigenic growth advantage. Expression of CYP27B1 has also been reported to be altered in parathyroid neoplasms.

Mutational analysis of the PTH 3'-untranslated region in parathyroid disorders.

Objective: Sequence alterations in untranslated regions (UTRs) of genes are important contributors to human diseases, including hereditary thrombophilia, hereditary hyperferritinaemia-cataract and fragile X mental retardation syndromes. Recently, functional studies of the 3'-UTR of the PTH gene, encoding parathyroid hormone, have highlighted it as a potential target for pathogenic mutations in patients with parathyroid dysfunction. Regulation of PTH gene expression occurs in part through protein binding to a specific 26 nucleotide instability element in the 3'-UTR of PTH mRNA, in a sequence-dependent manner.