A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect.

@article{Kottler2000ANC,
  title={A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect.},
  author={Marie Laure Kottler and St{\'e}phanie Chauvin and Najiba Lahlou and Colin E. Harris and Carl J. Johnston and Jean Pierre Lagarde and Philippe Bouchard and Nadir Rashad Farid and Raymond Counis},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2000},
  volume={85 9},
  pages={3002-8}
}
We describe a woman with complete hypogonadotropic hypogonadism and a new compound heterozygous mutation of the GnRH receptor (GnRHR) gene. A null mutation L314X leading to a partial deletion of the seventh transmembrane domain of the GnRHR is associated with a Q106R mutation previously described. L314X mutant receptor shows neither measurable binding nor inositol phosphate production when transfected in CHO-K1 cells compared to the wild-type receptor. The disease is transmitted as an autosomal… CONTINUE READING