Partial hypogonadotropic hypogonadism associated with the Leu266Arg and Gln106Arg mutation of the gonadotropin-releasing hormone receptor

Abstract

A patient with partial hypogonadotropic hypogonadism caused by a compound heterozygous GnRH-R mutation was described. Two different mutations were identified by TGGE and direct sequencing: one in exon 1 (Gln106Arg) and the other in exon 3 (Leu266Arg).