A 28-year-old woman was referred for endocrine evaluation of polydipsia and polyuria. She drank around 10 liters of fluids per day and had developed these symptoms during childhood. Family history revealed several members with similar symptoms.
Medical history was unremarkable except for polydipsia and polyuria. The diagnosis was confirmed through testing. Genetic testing revealed a mutation in the AVP gene. Treatment with desmopressin was initiated, resulting in marked regression of symptoms and improved quality of life. The patient's paternal uncle, aged 52, also had the same mutation and symptoms but did not consider any therapy.
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