Searchable abstracts of presentations at key conferences in endocrinology

ea0024p30 | (1) | BSPED2010

Pigmentary hypertrichosis and non autoimmune insulin dependent diabetes mellitus (PHID) syndrome is associated with chronic inflammation and elevated serum amyloid A protein

James C T , Padidela R , Hussain K

Background: PHID is a novel syndrome caused by mutations in SLC29A3, which encodes for the nucleoside transporter protein hENT3. It is associated with multiple endocrine manifestations including severe short stature, pubertal delay and pancreatic exocrine insufficiency. Mutations in SLC29A3 have also been linked to H syndrome and familial Rosai Dorfman Disease (RDD). A key feature of these syndromes is persistent inflammation. Currently there is no treatment for ...

ea0017p5 | (1) | BSPED2008

Mutations in TBCE are associated with hypoplasia of the anterior pituitary and corpus callosum in children with hypoparathyroidism-retardation-dysmorphism syndrome

Padidela R , Kelberman D , Hindmarsh P , Dattani M

Introduction: Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) is an autosomal recessive disorder characterized by distinct clinical, biochemical, and genetic abnormalities. HRD has almost exclusively been reported in children of Middle Eastern origin where the rate of consanguinity is high. The syndrome is characterized by severe short stature, the aetiology of which is unclear. Mutations in tubulin-specific chaperone E (TBCE), a gene encoding a chaperone requ...

ea0024oc1.4 | Oral Communications 1 | BSPED2010

The Growth Hormone Receptor Exon 3 Deleted Polymorphism is Associated with Birth and Placental Weight

Padidela R , Bryan S , Abu-Amero S , Hudson-Davies R , Achermann J , Moore G , Hindmarsh P

In humans Growth Hormone Receptor (GHR) transcripts exist in two isoforms, the full-length (GHRfl) or exon 3 deletion isoform (GHRd3). Individuals with the GHRd3 isoform are associated with an increased response to recombinant human GH. The d3/fl-GHR polymorphism does not influence adult height. However, an association with the d3/fl-GHR polymorphism has been found with antenatal growth especially in small for gestational age (SGA) infants. H...

ea0024p53 | (1) | BSPED2010

A novel disorder of increased energy expenditure with severe failure to gain weight and increased brown fat

Padidela R , Azizun N , Bennett K , James C , Aufieri R , Eaton S , Hussain K

Introduction: Obesity is one of the biggest health challenges we currently face. Obesity results from imbalance of energy consumption and expenditure. Genetic studies on monogenic forms of obesity and Genome Wide Association studies have revealed neuronal mechanisms of genesis of obesity and/or leanness. We report a novel disorder of increased energy expenditure with severe failure to gain weight and increased brown fat.Case report: The proband is a whit...

ea0023oc1.4 | Oral Communications 1 | BSPED2009

A multisystem disorder associated with defective selenoprotein synthesis and a thyroid signature

Padidela R , Al-Ali N , Schoenmakers E , Agostini M , Rajanayagam O , Dattani M T , Chatterjee V K K

The superfamily of ~25 human selenoproteins includes antioxidant and oxidoreductase enzymes together with other proteins of unknown function. We describe a child with a multisystem disorder involving deficiencies of several selenoproteins, identified on the basis of abnormal thyroid function.A 3.6-year-old male was referred with elevated free thyroxine (FT4 – 44.4 pmol/l (N 12–22)), low free triiodothyronine (FT3 &#...