Endocrine Abstracts

Hereditary multiple exostosis (HME) is an autosomal dominant disorder characterised by the development of benign cartilage-capped tumours, located at the juxtaepiphyseal regions of long bones. Patients suffer from short stature and skeletal deformities and may occasionally develop chondrosarcomas or osteosarcomas.HME is a genetically heterogeneous disorder and three loci referred to as EXT1, EXT2 and EXT3 have been mapped to chromosomes 8q24.1, 11p11-12...

Familial combined pituitary hormone deficiency can be due to a PROP 1 gene mutation. PROP1 is essential to pituitary morphogenesis. Mutations with inactivation of this gene results in deficiency of GH, PRL, TSH, LH, FSH and in some cases, ACTH.The authors describe an affected family, two sibs, with panhyopituitarism: a 10 years old female, and a 15 years old male, who presented with growth and pubertary development delay. Both children lacked GH, TSH, PR...