Searchable abstracts of presentations at key conferences in endocrinology

ea0027p20 | (1) | BSPED2011

Diabetes insipidus, immunodeficiency and colitis in infancy

Balapatabendi Mihirani , Fisher Gemma , Browning M , Green M , Dattani M , Greening James , O'Riordan S M

Case history: We report 7 weeks old with central diabetes insipidus, holoprosencephaly (HPE), immunodeficiency and severe colitis. She was first admitted with severe diarrhoea and hypernatremia. A diagnosis of central diabetes insipidus (CDI) was made and she was commenced on subcutaneous desmopressin (DDAVP). Her initial hypothalamic–pituitary axis (HPA) was normal (ACTH 10 ng/l, cortisol 635 nmol/l, GH 23 μg/l and TSH 3.30 μ/l). However repeated cortisols and ...