Endocrine Abstracts

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 ...