A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1.

@article{RiveroMller2015ANI,
  title={A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1.},
  author={Adolfo Rivero-M{\"u}ller and Iulia Potorac and Axelle Pintiaux and Adrian F Daly and Albert Thiry and Catherine Rydlewski and Michelle Nisolle and Anne-Simone Parent and I Lpo Huhtaniemi and Albert M. Beckers},
  journal={European journal of endocrinology},
  year={2015},
  volume={172 6},
  pages={
          K27-36
        }
}
OBJECTIVE The LH/chorionic gonadotrophin receptor (LHCGR) is a G protein-coupled receptor (GPCR) that plays a central role in male sexual differentiation, regulation of ovarian follicular maturation, ovulation and maintenance of corpus luteum and pregnancy, as well as maintenance of testicular testosterone production. Mutations in the LHCGR gene are very rare. The aim of this work was to study the clinical and molecular characteristics of a rare familial LHCGR mutation. METHODS Five affected… CONTINUE READING

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