Endocrine Abstracts

A 17 year old young lady with known learning difficulties, dysmorphic features and ulcerative colitis presented with hyperglycaemia aged 15 years and 8 months. To diagnose her learning difficulties and dysmorphysms: Karyotype and buccal swabs were normal with no evidence of mosaic Downs, normal FISH for Smith Magenis syndrome (17p deletion), DNA testing for Prader Willi syndrome showed biparental inheritance (therefore ruling out diagnosis except in very rare cases), Fragile X...