A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sister.

@article{Bruysters2008ANL,
  title={A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sister.},
  author={Martijn W P Bruysters and Sophie Christin-Ma{\^i}tre and Miriam Verhoef-Post and Charles S Sultan and Jacques Auger and Isabelle Faugeron and Lionel Larue and Serge Lumbroso and Axel P. N. Themmen and Philippe Bouchard},
  journal={Human reproduction},
  year={2008},
  volume={23 8},
  pages={1917-23}
}
BACKGROUND Inactivating LH receptor (LHR) mutations have been described so far in men as well as in women. Phenotypes in men have been variable with in nearly all cases impairment of sex differentiation or azoospermia. We report a milder reproductive phenotype both in a male patient and his sister. METHODS AND RESULTS We describe a family that carries a… CONTINUE READING