HNF1B and renal cysts and diabetes syndrome: already in 1999 reported a Norwegian family with MODY type 5 and progressive parenchymal kidney disease following autosomal dominant inheritance caused by a 75 bp in-frame deletion in exon 2 of HNF1B. Notably, two of four female variant carriers also had uterovaginal agenesis, supporting MRKH syndrome as part of the HNF1B disease spectrum (51).