Leprechaunism is an inherited insulin resistance syndrome,caused by homozygous or compound –heterozygous mutations in the insulin receptor gene.Preimplantation genetic diagnosis (PGD) is an early form of prenatal diagnosis.Donohue syndrome, is a very rare genetic disorder but it is fatal.A family with four children diagnosed with Donohue syndrome, three of them were born at term and lost around 5 months of age,and one of them was diagnosed with amniocentesis and terminated by abortion.By PGT we obtained a healthy baby.Our aim is to report the first case of Donohue syndrome which is diagnosed after performance of preimplantation genetic diagnosis (PGD) in Turkey.

Keywords: Donohue syndrome, preimplantation genetic diagnosis, pregnancy