Endocrine Abstracts

Parathyroid tumours occurring in association with ossifying fibromas of the jaw are the hallmarks of the hyperparathyroidism-jaw tumour (HPT-JT) syndrome, which is inherited as an autosomal dominant trait. The HPT-JT gene, which is located on chromosome 1q25, consists of 17 exons and encodes a 531 amino acid protein named PARAFIBROMIN (Nature Genetics, in press). The observation of loss of heterozygosity (LOH) involving 1q25 in HPT-JT parathyroid tumours and the detection of i...

Background & Methods: Occasional case reports of individual patients with scalp hairloss while receiving somatostatin analogues for acromegaly led us to audit similar patients in our departments.Results: Ten patients (four men, mean age at diagnosis 44.7years [range 26-65years]) who have received somatostatin analogues either initially as primary therapy (50%) or as post-surgical treatment (50%) for uncured acromegaly reported significant scalp hair...

Background: Anecdotal reports have suggested that silent ACTH tumours behave in an aggressive fashion, however, clear comparative data are lacking.Methods: 28 patients (16 men, mean age 51.3years [range 30-80years]) who underwent trans-sphenoidal surgery in Oxford between 1975 and 2001 for clinically non-functioning adenomas where the subsequent immunostaining was positive for ACTH were identified from the patient database. The mean follow-up period was...

Mutations of parafibromin, which is a 531 amino acid protein, are associated with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome. HPT-JT is an autosomal dominant disease that is characterised by the occurrence of parathyroid tumours, which are commonly malignant, and ossifying fibromas of the jaw bones. To date 13 different inactivating germline mutations (3 nonsense, 9 frameshift and one missense altering the initiation codon) of PARAFIBROMIN have been identified in HPT...

Background: Hypercalcaemia is independently associated with increased cardiovascular morbidity/mortality. It is a poor prognostic marker in malignancy. Best practice dictates further investigation of any high calcium values. Recognition of primary hyperparathyroidism (PHPT) is important for long term follow-up and management.Aims: Survey of causes of hypercalcaemia in adults (>18 years) from samples sent to one hospital lab over 1 year with particula...

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disease characterised by the occurrence of parathyroid tumours, which are often carcinomas, and fibro-osseous tumours of the jaw bones. The HPT-JT gene is on chromosome 1q25 and consists of 17 exons that encode a 531 amino-acid protein, designated PARAFIBROMIN (Nature Genetics, in press). Thirteen heterozygous germline mutations that result in truncated or inactivated forms of PARAFIBROMIN have been ...

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome, an autosomal dominant disorder, is characterised by the occurrence of parathyroid tumours, often carcinomas, and ossifying fibromata of the jaw. The HPT-JT gene, referred to as HRPT2, is located on chromosome 1q25 and consists of 17 exons that encode a 531 amino-acid protein designated parafibromin. To explore the role of HRPT2 in parathyroid tumourigenesis, we generated two mouse models that comprised a conve...