Endocrine Abstracts

Hepatocyte nuclear factor 1B (HNF1B) defects (mutations or deletion) are associated with amultisystem disorder, including urinary tract abnormalities and diabetes (MODY 5, maturity-onset diabetes of the young type 5). We present the case of a patient with congenital anomalies of the kidney and urinary tract in the context of 17q12 deletion syndrome who several years later, presented with MODY 5. A 20-year-old male presented at the outpatient Endocrine Clinic with new-...