Endocrine Abstracts

The multiple endocrine neoplasia (MEN) clinic at our hospital was established in 2002 with the aim of providing integrated, comprehensive and expert regional care to patients with MEN syndrome. The clinical team consists of an adult endocrinologist, a paediatric endocrinologist, a clinical geneticist and an endocrine surgeon.In 2002, 16 patients with MEN type 1 from five different kindred were seen. These patients had previously been attending a combinat...

Introduction: Pallister–Hall syndrome (PHS) is characterized by a spectrum of anomalies which includes polydactyly, hypothalamic hamartoma, laryngotracheal cleft, bifid epiglottis, imperforate anus, and renal abnormalities. Hypoplastic cochlea is an infrequently reported association of PHS. The association of PHS with hyperinsulinaemic hypoglycaemia (HH) has not been previously reported in the literature.Case report: A baby girl was born by elective...

The cytoplasmic domains of EGF-like ligands have important biological functions. Stable transfectants of the human follicular thyroid carcinoma cell line FTC-133 over-expressing the cytoplasmic domain of proEGF (FTC-133-proEGFcyt) demonstrated a transcriptional up-regulation of the lysosomal hydrolases cathepsin- (cath-) B and -D and alterations in the processing of cath-L protein. Cath-L has strong elastinolytic activity and was the only of the three cathepsins to be secreted...

Introduction: De novo truncating heterozygous mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated to cause Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features. We describe, for the first time, a patient with severe short stature secondary to IGF1 deficiency, severe learning difficulties and dysmorphic features due to novel compound heterozygous mutation in <...