Endocrine Abstracts

Diabetes insipidus (DI) is a disorder which is rarely seen and it is characterized by polydipsia and polyuria. Inadequate secretion of arginine vasopressin (AVP) from hypothalamus or inadequate response of kidney cells to AVP could be causes of DI. Therefore, any mutations in AVPR2, AVP and AQP2 genes which are the parts of that stimulation and response pathyway can cause DI. In this study, mutational analyse was performed for A45T mutation in AQP2 gene. We present a novel hom...