Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.

Objective: Congenital uterine abnormalities are common and may be associated with developmental renal abnormalities. Mutations of the hepatocyte nuclear factor-1β (HNF1B) gene are associated with renal and uterine abnormalities. We aimed to study the role of HNF1B mutations in a cohort with congenital uterine abnormalities.

Study Design: We tested 108 probands with uterine abnormalities for HNF1B mutations. We collected clinical information from patient records.

Results: Nine of 108 women (8%) had a mutation or deletion in the HNF1B gene. Abnormal HNF1B was found in 18% of the 50 probands who had both uterine and renal abnormalities but in none of the 58 women with isolated uterine abnormalities.

Conclusion: Mutations of the HNF1B gene are found in women with both uterine and renal abnormalities but are rare in isolated uterine abnormalities. We suggest that HNF1B testing should be performed in patients with both renal and uterine abnormalities, but not in patients with isolated uterine abnormalities.