Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor.

Introduction: Three single-nucleotide polymorphisms in the calcium-sensing receptor gene (CASR) encoding the missense substitutions A986S, R990G, and Q1011E have been associated with normal variation in extracellular calcium homeostasis, both individually and in haplotype combination. The aim of this study was to examine haplotype associations in primary hyperparathyroidism (PHPT).

Patients And Methods: Patients with sporadic PHPT (n = 237) were recruited from endocrine clinics and healthy controls (n = 433) from a blood donor clinic, and levels of serum calcium, albumin, and PTH were measured.

The risk of fractures in postmenopausal women with primary hyperparathyroidism.

Objective: To evaluate the prevalence of vertebral (vFr) and non-vertebral (nvFr) fractures in postmenopausal women with primary hyperparathyroidism (PHPT).

Materials And Methods: We studied 98 patients with PHPT, divided into 'mild' (M, n = 25) and 'non-mild' (NM, n = 73) sub-groups, according to recently published guidelines (2002), and 89 healthy women (C) matched for age, years since menopause and body mass index. vFr was evaluated according to a visual semiquantitative method; bone mineral density (BMD) at the lumbar spine (LS), and femoral sites (femoral neck, FN and total femur, FT) was measured by dual energy X-ray absorptiometry.

Vitamin D status as the major factor determining the circulating levels of parathyroid hormone: a study in normal subjects.

We investigated the relative contribution of the major factors regulating calcium homeostasis in determining the circulating levels of PTH. We studied 137 males and 125 females who were healthy volunteers. Circulating PTH levels were determined by three different immunoradiometric assays (IRMA).

Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor.

Blood ionized calcium (iCa) is a quantitative trait subject to genetic influence. iCa is maintained in a narrow range through the action of the calcium-sensing receptor (CASR) controlling PTH secretion and calcium excretion. A CASR single nucleotide polymorphism (SNP) prevalent in Caucasian populations (A986S) has shown significant association with iCa in a cohort of young women, but association with the neighboring SNPs, R990G and Q1011E, has not been examined.

Quality of life in ambulatory postmenopausal women: the impact of reduced bone mineral density and subclinical vertebral fractures.

Health-related quality of life (HRQOL) in postmenopausal women with osteoporosis has hitherto been mainly assessed in patients with clinically recognized vertebral fractures. Our study aimed to investigate the QOL perception in 361 asymptomatic ambulant postmenopausal women who came to our center for an osteoporosis screening program planned with their general practitioners. The Quality of Life Questionnaire of the European Foundation for Osteoporosis (QUALEFFO) was administered to all subjects.

Impact of fractures on health care in a major university hospital in Rome.

Background And Aims: The aim of the study was to investigate the impact of fractures (i.e., hip, Colles, humeral and vertebral fractures), compared with that of other common diseases requiring hospitalization, on health care in the main hospital in Rome (Italy).

Potential clinical utility of a new IRMA for parathyroid hormone in postmenopausal patients with primary hyperparathyroidism.

Background: A new commercially available (so-called second-generation) IRMA for parathyroid hormone (PTH) separately detects intact PTH and its N-truncated fragments; however, no studies have compared the first- and second-generation IRMAs for PTH in patients with primary hyperparathyroidism (PHPT) to assess their respective diagnostic accuracies.

Methods: We concomitantly investigated 39 postmenopausal patients with PHPT and a control group of 70 healthy postmenopausal women matched for age, renal function, and vitamin D status. In all individuals, PTH was measured with a classic IRMA (PTH-S; DiaSorin Inc.

Vitamin D status in female patients with primary hyperparathyroidism: does it play a role in skeletal damage?

Objective: Vitamin D deficiency, even subclinical, has been considered to worsen the skeletal damage in primary hyperparathyroidism (PHPT). Our study aimed to investigate the impact of vitamin D status on skeletal involvement in PHPT.

Design And Measurements: A cross-sectional study was designed involving 62 female patients with PHPT.

[Clinical aspects of osteoporosis].

The main clinical presentation of osteoporosis is fracture and its consequences. However a number of diseases and factors can induce bone loss and increase the risk of fracture. Therefore the clinical approach should be initially directed to exclude secondary osteoporosis.

Concurrent parathyroid adenomas and carcinoma in the setting of multiple endocrine neoplasia type 1: presentation as hypercalcemic crisis.

We describe a patient with multiple endocrine neoplasia type 1 characterized by the simultaneous occurrence of parathyroid cancer, parathyroid adenomas, and pancreatic gastrinoma, who presented with an episode of acute hypercalcemia. The rapid parathyroid hormone assay provided a basis for the diagnosis of parathyroid hyperfunction. Mediastinal metastasis of the parathyroid carcinoma was found at autopsy.