Endocrine Abstracts

Background: HNF1β mutations are one of the commonly identified genetic causes of renal malformations, but one of the less common forms of MODY. HNF1β is involved in the development of kidneys, liver, pancreas, intestine and urogenital tract. Patients can present with distinctive but highly variable clinical features. The aim of this study is to evaluate the clinical, biochemical and radiological variability of HNF1β variants and the challenge of management on th...