Searchable abstracts of presentations at key conferences in endocrinology

ea0024p36 | (1) | BSPED2010

MCADD and IDDM-A rare combination

Mani S , El-Refee S , Sharrard M

Introduction: We describe an 11-year-old boy (N) with Medium-Chain Acyl Dehydrogenase Deficiency (MCADD) diagnosed at one year of life and type 1 IDDM diagnosed at 10 years.History and discussion: N was diagnosed with MCADD when he was found hypoglycaemic. He was treated with the standard Emergency Regimen (a special feeding plan used if the child is unwell or not feeding well, wherein glucose polymer feeds are given frequently) and has had no further pr...

ea0030p60 | (1) | BSPED2012

Septo-optic dysplasia and X-linked adrenoleukodystrophy: two rare conditions presenting together

Chatterjee Sumana , Croft Joanne , Sharrard Mark , Wales Jerry

Although pituitary abnormalities are the most commonly reported endocrine feature in septo-optic dysplasia, other endocrine abnormalities have not been described so far. We present a case of septo-optic dysplasia (SOD) and pituitary dysfunction, complicated by X-linked adrenoleucodystrophy (X-ALD) and primary adrenal insufficiency.A 4-year-old boy was referred with hypoglycaemic episodes and seizures during intercurrent illnesses. He had a history of pol...