Endocrine Abstracts

Introduction: Maturity-onset diabetes of the young (MODY) 5 is caused by mutations in the TCF2 (HNF1B) gene encoding the transcription factor hepatocyte nuclear factor-1. However, in 60% ofthe patients with a phenotype suggesting MODY5, no pointmutation is detected in TCF2 gene. In some of those patients genomic rearrangements may be responsible for the phenotype.

MODY5 or renal and diabetes syndrome (OMIM #137920) encompasses a wide clinical spectrum comprising diabetes, pancreas atrophywith subclinical exocrine deficiency, progressive nondiabetic nephropathy, kidney and genital malformations and liver abnormalities.

Case report: We present a case of a 22-year-old woman with primary amenorrhoea and hirsutism. In adolescence due to abnormal liver test she was diagnosed with Gilbert syndrome. During the current diagnostic process imaging findings including ultrasonography and MRI of the abdomen revealed normal vagina and ovaries but rudimentary uterus, bilateral kidney cysts, laboratory test revealed elevation of the serum levels of the liver transaminases, adrenal androgenization (NCCAH was excluded), impaired fasting glucose and impaired glucose tolerance with moderate hyperinsulinemia and hyperuricemia.

She was consulted by a geneticist and renal cysts and diabetes syndrome was suspected. The sequencing of HNF1B gene was ordered but revealed no mutation, whereas multiplex ligation-dependent probe amplification (MLPA) P297-C1 revealed 17q12 deletion including genes: LHX1, AATF and HNF1B genes.

Conclusions: In conclusion we hope that our detailed description of the patient with the phenotype of MODY 5/renal cyst and diabetes syndrome due to 17q12 deletion will contribute to the further genotype-phenotype delineation of that syndrome. We would also like tostress that in patients with a phenotype suggesting MODY5 and no pointmutation detected in HNF1B gene, genomic rearrangements including deletions should be searched for.