Endocrine Abstracts

SEMDs are a heterogeneous group of skeletal disorders characterised by defective growth and modelling of the spine and long bones. Genetic defects in two inherited SEMDs have been identified and these involve abnormalities of the collagen type II gene located on chromosome 12q12-q13.2, and an ATP sulfurylase/APS kinase gene located on 10q23-34. These are not the cause of the Missouri variant (SEMDMO), which occurs as an autosomal dominant trait in a unique four-gene...

Primary hyperparathyroidism (HPT) is most frequently encountered as a non-familial disorder, but 10% of patients with primary HPT will have a hereditary form, which may occur as an isolated endocrinopathy or as part of a complex tumour syndrome such as multiple endocrine neoplasia type 1 (MEN 1) or type 2 (MEN 2), or the hereditary hyperparathyroidism-jaw tumour syndrome (HPT-JT). Familial isolated hyperparathyroidism (FIHP) is an autosomal dominant disorder characterised by u...