Endocrine Abstracts

Methods: In a prospective longitudinal study, 156 determinations of osteocalcine (OC) as a marker of bone formation, and of C-telopeptide of type-1 collagene (CTX and ICTP) as markers of bone resorption were performed in 103 patients {20 men (median age 50 years), 83 females (median age 56 years – 58% with age >50 years)} treated with suppressive levothyroxine therapy for DTC. Bone mineral density (BMD) of the hip was measured by dual X-ray absorpti...

3-M syndrome is an autosomal recessive primordial growth disorder characterized by pre- and post-natal growth restriction, facial dysmorphism and radiological abnormalities. Mutations in the gene CUL7 have been previously shown to cause 3-M syndrome. CUL7 is a member of the cullin family of E3 ubiquitin ligases involved in targeted protein degradation.We identified a large cohort of 3-M syndrome patients who did not carry CUL7 mutations but...