Introduction: The clinical syndrome of pancreatic, renal, genital, liver, intestinal and neurological abnormalities, isolated or in the context of multi-organ involvement, was reported in association with mutation in hepatocyte nuclear factor -1beta. HNF-1beta is a transcription factor that is vital for embryonic development, and is expressed in the kidney, liver, genital tract, pancreas and other organs. The HNF-1beta gene is located on chromosome 17q12.3.
Case presentation: a 17-year old female presented with primary amenorrhea and normal pubertal development. Routine laboratory evaluation and ovarian function tests were normal. Pelvic US revealed a small uterus and normal ovaries and pelvic MRI showed hypoplastic bicornuate uterus with rudimentary cervix and normal ovaries. Additional laboratory tests showed slightly elevated HBA1C of 6.1 % and oral glucose tolerance test was diagnostic for diabetes mellitus with normal insulin levels. Metformin treatment was initiated and resulted in good glycemic control. Due to the genital findings the girl also performed a kidney ultrasound that showed bilateral renal cysts 1x1 cm each while kidney functions were normal. No family history of diabetes, genital or renal malformation was elicited.
Discussion: the rare combination of diabetes mellitus, genital and kidney malformations raised suspicion for a mutation in HNF-1beta gene. Genetic analysis is pending.
Conclusions: the distinct combination of diabetes mellitus at young age (maturity onset diabetes of the young {MODY} most probably), kidney malformations/dysfunction and genital malformations suggests HNF-1beta mutation. Early diagnosis can avoid unnecessary investigations and enable proper follow up to prevent future renal failure, genital complications and diabetes complications.
