Endocrine Abstracts

Objective: To determine whether there is a seasonal variation in bone mineral density (BMD) related to exposure to sunlight.Design: A single-centre retrospective analysis of BMD measurements.Participants: Of 10 971 patients who had undergone bone densitometry in the period 2000–2007. 7513 were female and 3458 male.Results: Anonymised data on BMD of lumbar spine was gathered from existing hospital databas...

Introduction: 3-M syndrome is an autosomal recessive disorder characterised by pre- and postnatal growth restriction, characteristic facial dysmorphism, normal intelligence and radiological features (slender long bones and tall vertebral bodies). It is known to be caused by mutations in the genes encoding Cullin 7 (a component of the ubiquitination system) and Obscurin like-1 (a cytoskeletal protein). The mechanisms through which mutations in these genes impair growth are uncl...

3-M syndrome is an autosomal recessive disorder characterised by severe pre- and post-natal growth failure, a characteristic facial appearance (triangular shaped face, fleshy tipped nose) and radiological features (slender long bones and tall vertebrae). 3-M syndrome is known to be caused by mutations throughout the Cullin 7 gene, identified in a range of ethnic groups including Brazilian, European, Moroccan, Yakutskian and Indian.We have now identified ...

Recent health reports state that the population of western countries is consuming excessive amounts of n-6 polyunsaturated fatty acids (PUFAs) in the diet. Dietary n-6 PUFAs are precursors for prostaglandin (PG) synthesis, which play important roles in parturition. Increased dietary n-6 PUFA could thus alter PG production. This study determined the effect of a high n-6 PUFA diet on PG production and the timing of the onset of labour. Pregnant Welsh Mountain ewes were fed an is...

Background: Sex hormone-binding globulin (SHBG) is a dimeric glycoprotein synthesized in, and secreted from, hepatocytes. SHBG is also expressed in, but not secreted from, the prostate, where its role is unclear. The expression of SHBG is linked to lipid metabolism, and it also modulates transport and availability of androgen. Given its expression in the prostate and role in the androgen signalling axis, we postulated that expression of SHBG will increase in prostate cancer (P...

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...