A novel mutation in exon8 of the follicle-stimulating hormone receptor in a woman with primary amenorrhea

References

• Themmen A P, Huhtaniemi I. Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal fucttion. Endocr Rev 2000; 21: 551–583
   PubMed Web of Science ®Google Scholar
• Aittomäki K, Dieguez Lucena J L, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila E M, Lehväslaiho H, Engle A R, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995; 82: 959–968
   PubMed Web of Science ®Google Scholar
• Beau I, Touraine P, Meduri G, Gougeon A, Desroches A, Matuchansky C, Milgrom E, Kuttenn F, Misrahi M. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. J Clin Invest 1998; 102: 1352–1359
   PubMed Web of Science ®Google Scholar
• Touraine P, Beau I, Gougeon A, Meduri G, Desroches A, Pichard C, Detoeuf M, Paniel B, Prieur M, Zorn J R, et al. New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype. Mol Endocrinol 1999; 13: 1844–1854
   PubMedGoogle Scholar
• Allen L, Achermann J, Pakarinen P, Kotlar T, Huhtaniemi I, Jameson L, Cheetham T, Ball S. A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteriscics. Hum Reprod 2003; 18: 251–256
   PubMed Web of Science ®Google Scholar
• Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhtaniemi I, Forrest S, Aittomäki K. A novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. J Clin Endocrinol Metab 2002; 87: 1151–1155
   PubMed Web of Science ®Google Scholar
• Meduri G, Touraine P, Beau I, Lahuna O, Desroches A, Vacher-Lavenu M C, Kuttenn F, Misrahi M. Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies. J Clin Endocrinol Metab 2003; 88: 3491–3498
   PubMed Web of Science ®Google Scholar
• Kremer H, Kraaij R, Toledo S PA, Post M, Fridman J B, Hayashida C Y, van Reen M, Milgrom E, Ropers H H, Mariman E, et al. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nature Genet 1995; 9: 160–164
   PubMed Web of Science ®Google Scholar
• Davis D, Liu X, Segaloff D L. Identification of the sites of N-linked glycosylation on the follicle-stimulating hormone (FSH) receptor and assessment of their role in FSH receptor function. Mol Endocrinol 1995; 9: 159–170
   PubMedGoogle Scholar
• Simoni M, Gromoll J, Nieschlag E. The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev 1997; 18: 739–773
   PubMed Web of Science ®Google Scholar
• Rozell T G, Wang H, Liu X, Segaloff D L. Intracellular retention of mutant gonadotropin receptors results in loss of hormone binding activity of the follitropin receptor but not the lutropin/choriogonadotropin receptor. Mol Endocrinol 1995; 9: 1727–1736
   PubMedGoogle Scholar
• Sprengel R, Braun T, Nikolics K, Segaloff D L, Seeburg P H. The testicular receptor for follicle-stimulating hormone: structure and functional expression of cloned cDNA. Mol Endocrinol 1990; 4: 525–530
   PubMedGoogle Scholar
• Minegishi T, Nakamura K, Takakura Y, Ibuki Y, Igarashi M. Cloning and sequencing of human FSH receptor cDNA. Biochem Biophys Res Commun 1991; 175: 1125–1130
   PubMed Web of Science ®Google Scholar
• Gromoll J, Dankbar B, Sharma R S, Nieschlag E. Molecular cloning of the testicular follicle-stimulating hormone receptor of the non human primate Macaca fascicularis and identification of multiple transcripts in the testis. Biochem Biophys Res Commun 1993; 196: 1066–1072
   PubMed Web of Science ®Google Scholar
• Simoni M, Nieschlag E, Gromoll J. Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction. Hum Reprod Update 2002; 8: 413–421
   PubMed Web of Science ®Google Scholar
• Jun J K, Yoon J S, Ku S Y, Choi Y M, Hwang K R, Park S Y, Lee G H, Lee W D, Kim S H, Kim J G, Moon S Y. Follicle-stimulating hormone receptor gene polymorphism and ovarian responses to controlled ovarian hyperstimulation for IVF-ET. J Hum Genet 2006; 51: 665–670
   PubMed Web of Science ®Google Scholar
• Loutradis D, Patsoula E, Minas V, Koussidis G A, Antsaklis A, Michalas S, Makrigiannakis A. FSH receptor gene polymorphisms have a role for different ovarian response to stimulation in patients entering IVF/ICSI-ET programs. J Assist Reprod Genet 2006; 23: 177–184
   PubMed Web of Science ®Google Scholar
• Layman L C, Arnde S, Cohen D P, Jin M, Xie J. The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure. Fertil Steril 1999; 69: 300–302
   Web of Science ®Google Scholar
• Takakura K, Takebayashi K, Wang H Q, Kimura F, Kasahara K, Noda Y. Follicle-stimulating hormone receptor gene mutations are rare in Japanese women with premature ovarian failure and polycystic ovary syndrome. Fertil Steril 2001; 75: 207–209
   PubMed Web of Science ®Google Scholar
• Cai J, Lou H Y, Dong M Y, Lu X E, Zhu Y M, Gao H J, Huang H F. Poor ovarian response to gonadotropin stimulation is associated with low expression of follicle-stimulating hormone receptor in granulose cells. Fertil Steril 2007; 87: 1350–1356
   PubMed Web of Science ®Google Scholar