Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.

@article{Pallais2006NeuroendocrineGP,
  title={Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.},
  author={J. Carl Pallais and Yousef Bo-Abbas and Nelly Pitteloud and William Francis Crowley and Stephanie Beth Seminara},
  journal={Molecular and cellular endocrinology},
  year={2006},
  volume={254-255},
  pages={70-7}
}
The G protein coupled receptor, GPR54, is a key regulator of puberty and reproductive function. Despite its prismatic role, few patients with mutations in GPR54 and the phenotype of hypogonadotropic hypogonadism have been described. This report explores the neuroendocrine, gonadal, placental and obstetric phenotypes of patients with idiopathic hypogonadotropic hypogonadism (IHH) carrying missense (L148S), nonsense (R331X), and nonstop (X399R) mutations in GPR54. A male patient harboring the… CONTINUE READING
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