Endocrine Abstracts

Introduction: INSL3 and its receptor LGR8, are essential for the first phase of testicular descent. Homozygous loss of either of the two genes in mice leads to cryptorchidism. Even though mutations in both homologous human genes are not a common cause of cryptorchidism. To date, only one missense mutation at codon 222 (T222P) of the LGR8 gene has been proposed as causative mutation for cryptorchidism. This conclusion was based on both functional in vitro studies and the...