De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia

29-year-old female presenting with an 8-year history of unexplained hypomagnesaemia, which was severe enough to warrant intermittent inpatient admission for intravenous magnesium. Urinary magnesium was inappropriately normal in the context of hypomagnesaemia indicating magnesium wasting. Ultrasound...

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Bibliographic Details
Main Authors: C E Stiles, R Thuraisingham, D Bockenhauer, L Platts, A V Kumar, M Korbonits
Format: Article
Language:English
Published: Bioscientifica 2018-03-01
Series:Endocrinology, Diabetes & Metabolism Case Reports
Online Access:https://www.edmcasereports.com/articles/endocrinology-diabetes-and-metabolism-case-reports/10.1530/EDM-17-0120