Endocrine Abstracts

Introduction: Musculoskeletal manifestation is one of the leading cause of morbidity and disability among type 2 diabetics. Also management of these conditions with steroids and non-steroidal anti-inflammatory drugs, adversely impact the glycaemic control of diabetics. Our study aims to look for prevalence of different musculoskeletal manifestation among type 2 diabetes.Methodology: Our study is a cross-sectional observational study and it is comprised o...

Ovarian hyperthecosis is a rare cause of androgenic alopecia in postmenopausal women. The physiological levels of androgens, secreted by ovarian stromal cells, are greatly increased with hyperplastic or neoplastic transformation leading to possible clinical consequences.We report a case of 56-year-old woman with type 2 diabetes presenting with hirsuitism and a history of male pattern hair loss over a two-year period. Biochemistry showed elevated levels o...

Ovarian hyperthecosis is a rare cause of androgenic alopecia in postmenopausal women. The physiological levels of androgens, secreted by ovarian stromal cells, are greatly increased with hyperplastic or neoplastic transformation leading to possible clinical consequences.We report a case of a 56-year-old woman with type 2 diabetes presenting with hirsuitism and a history of male pattern hair loss over a two year period. Biochemistry showed elevated levels...

Ubiquitination (Ub) is the process that controls the level and activity of cellular proteins. Mono-ubiquitination of a protein alters its function, while poly-ubiquitination targets a protein for degradation (as the ‘kiss of death’). Alterations in the Ub system are associated with a wide range of disease, e.g. cancer, neurological diseases and viral infection.Disorders of growth where the phenotype is primarily short stature are usually caused...

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 ...

3-M syndrome is characterised by post-natal growth restriction. We have identified causative mutations in three genes CUL7, OBSL1 and CCDC8. CUL7, a component of an E3 ubiquitin ligase, has a binding domain for p53 and its reduction or absence has a major impact on growth and cell division. OBSL1 is postulated to have a role as a cytoskeletal adaptor, and was not recognised previously to be a growth regulator. The domain structure of CCDC8 predicts a possi...

Background: 3-M syndrome is an autosomal recessive disorder characterized by pre- and post-natal growth restriction, normal intelligence and dysmorphic facial features. Mutations in the genes encoding Cullin 7 (CUL7) and Obscurin like-1 (OBSL1) have been shown to cause 3-M syndrome.Aims: To characterize CUL7 production and localization in a primary fibroblast cell line from a patient with 3-M syndrome due to a CUL7 mutation and to assess cell prol...

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...