Endocrine Abstracts

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 ...

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...

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...

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...

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 &#...