Endocrine Abstracts

Background and aims: Patients with AVPR2 gene mutations present nephrogenic diabetes insipidus (NDI) resulting to a severe deficit in urine concentration despite high levels of circulating Antidiuretic Hormone (ADH). The mutation in codon 106 of the AVPR2 gene leading to the substitution of arginine by cysteine (R106C) is known to produce a mild disease while in vitro characterization revealed a complete loss of function. We report the case of a 24-year-old male member ...