Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.

@article{Raivio2009ImpairedFG,
  title={Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.},
  author={Taneli Raivio and Yisrael Sidis and Lacey Plummer and Huaibin Chen and Jinghong Ma and Abir Mukherjee and Elka E. Jacobson-Dickman and Richard Quinton and G. J. A. van Vliet and H{\'e}l{\`e}ne B. Lavoie and Virginia A Hughes and Andrew Dwyer and Frances J. Hayes and Shuyun Xu and Susan E. Sparks and Ursula Brigitte Kaiser and Moosa Mohammadi and Nelly Pitteloud},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2009},
  volume={94 11},
  pages={4380-90}
}
CONTEXT FGFR1 mutations have been identified in about 10% of patients with Kallmann syndrome. Recently cases of idiopathic hypogonadotropic hypogonadism (IHH) with a normal sense of smell (nIHH) have been reported. AIMS The objective of the study was to define the frequency of FGFR1 mutations in a large cohort of nIHH, delineate the spectrum of reproductive phenotypes, assess functionality of the FGFR1 mutant alleles in vitro, and investigate genotype-phenotype relationships. DESIGN FGFR1… CONTINUE READING

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