ABSTRACT

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