Preimplantation genetic diagnosis for Donohue syndrome (Leprechaunism): Case report

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 but fatal genetic disorder. A family with four children were diagnosed with Donohue syndrome, three of them were born at term and lost around 5 months of age,and one was diagnosed by amniocentesis and terminated by abortion. By PGT we obtained a healthy baby. Our aim is to report the first case of Donohue syndrome diagnosed after performance of preimplantation genetic diagnosis (PGD) in Turkey.