Advertisement

Follicle-Stimulating Hormone Receptor Mutation and Fertility

  • T. Vaskivuo
  • K. Aittomäki
  • I. T. Huhtaniemi
  • J. S. Tapanainen
Conference paper
Part of the Ernst Schering Research Foundation Workshop book series (SCHERING FOUND, volume 3)

Abstract

Recent studies on the molecular pathogenesis of diseases have shown that even infertility can be hereditary. This contrasts with the general opinion that infertility cannot by nature be an inherited condition. Rapid progress in the field of molecular biology has enabled the identification and detailed characterization of mutations and polymorphisms causing impaired fertility. Although the ultimate cause of such disorders cannot be treated today, affected individuals suffering from these conditions can be effectively helped with the new assisted reproductive techniques.

Keywords

Luteinizing Hormone Follicle Stimulate Hormone Follicle Stimulate Hormone Receptor FSHR Gene Serum Follicle Stimulate Hormone Level 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Aittomäki K (1994) The genetics of XX gonadal dysgenesis. Am J Hum Genet 54:844–851PubMedGoogle Scholar
  2. Aittomäki K, Dieguez Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila E-M, Lehväslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, de la Chapelle A (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82:956–968CrossRefGoogle Scholar
  3. Bremner WR, Matsumoto AM, Sussman AM, Paulsen CA (1981) Folliclestimulating hormone and human spermatogenesis. J Clin Invest 68:1044–1052PubMedCrossRefGoogle Scholar
  4. Furui K, Suganuma N, Tsukahara S, Asada Y, Kikkawa F, Tanaka M, Ozawa T, Tomoda Y (1994) Identification of two point mutations in the gene coding luteinizing hormone (LH) ß-subunit, associated with immunologically anomalous LH variants. J Clin Endocrinol Metab 78: 107–113PubMedCrossRefGoogle Scholar
  5. Gromoll J, Simoni M, Nieschlag E (1995) An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomised man. J Clin Endocrinol Metab 81:1367–1370CrossRefGoogle Scholar
  6. Haavisto A-M, Petterson K, Bergendahl M, Virkamäki A, Huhtaniemi I (1995) Occurrence and biological properties of a common genetic variant of luteinizing hormone. J Clin Endocrinol Metab 80:1257–1263PubMedCrossRefGoogle Scholar
  7. Halpin DM, Charlton HM, Faddy MJ (1986) Effects of gonadotrophin deficiency on follicular development in hypogonald (hpg) mice. J Reprod Fertil 78:119–125PubMedCrossRefGoogle Scholar
  8. Heckert LL, Daley IJ, Griswold MD (1992) Structural organization of the follicle-stimulating hormone receptor gene. Mol Endorcinol 6:70–80CrossRefGoogle Scholar
  9. Knobil E (1980) The neuroendocrine control of the menstrual cycle. Recent Progr Horm Res 1980:53–88Google Scholar
  10. Koo YB, Ji I, Slaughter RG, Ji TH (1991) Structure of the luteinizing hormone receptor gene and multiple exons of the coding sequence. Endocrinology 128:2297–2308PubMedCrossRefGoogle Scholar
  11. Kotlar TJ, Young RH, Albanese C, Crowley WF, Scully RE, Jameson JL (1997) A mutation in the follicle-stimulating hormone receptor occurs frequently in human ovarian sex cord tumors. J Clin Endocrinol Metab 82:1020–1026PubMedCrossRefGoogle Scholar
  12. Kremer H, Mariman E, Otten BJ, Moll GW Jr, Stoelinga GB, Wit JM, Jansen M, Drop SL, Faas B, Ropers HH, Brunner HG (1993) Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited nrecocious nubertv. Hum Mol Genet 2:1779–1783PubMedCrossRefGoogle Scholar
  13. Kremer H, Kraaij R, Toledo SPA, Post M, Fridman JB, Hayashida CY, van Reen M, Milgrom E, Ropers HH, Mariman E, Themmen APN, Brunner HG (1995) Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat Genet 9:160–164PubMedCrossRefGoogle Scholar
  14. Kumar TR, Wang Y, Lu N, Matzuk MM (1997) Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility. Nat Genet 15:201–204PubMedCrossRefGoogle Scholar
  15. Latronico AC, Anasti J, Arnhold IJ, Rapaport R, Mendonca BB, Bloise W, Castro M, Tsigos C, Chrousos GP (1996) Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone receptor gene. N Engl J Med 344:507–512CrossRefGoogle Scholar
  16. Laue L, Wu SM, Kudo M, Hsueh AJW, Cutler GB Jr, Chan WY (1995) Missense mutations in exons 10 and 11 of the human luteinizing hormone receptor gene are associated with Leydig cell hypoplasia. Am J Hum Genet 57 [Suppl 1253]Google Scholar
  17. Laue LL, Wu SM, Kudo M, Bourdony CJ, Cutler GB Jr, Hsueh AJ, Chan WY (1996) Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia. Mol Endocrinol 10:987–997PubMedCrossRefGoogle Scholar
  18. Layman LC, Shelley ME, Huey LO, Wall SW, Tho SP, McDonough PG (1993) Follicle-stimulating hormone beta gene structure in premature ovarian failure. Fertil Steril 60:852–857PubMedGoogle Scholar
  19. Matthews CH, Borgato S, Beck-Peccoz P, Adams M, Tone Y, Gambino G, Casagrande S, Tedeschini G, Benedetti A, Chatterjee VK (1993) Primary amennorrhoea and infertility due to a mutation in the betasubunit of follicle-stimulating hormone. Nat Genet 5:83–86PubMedCrossRefGoogle Scholar
  20. Minegishi T, Nakamura K, Takakura Y, Miyamoto K, Hasegawa Y, Ibuki Y, Igarishi M (1990) Cloning and sequencing of human LH/hCG receptor cDNA. Biochem Biophys Res Commun 172:1049–1054PubMedCrossRefGoogle Scholar
  21. Minegishi T, Nakamura K, Takakura Y, Ibuki Y, Igarishi M (1991) Cloning and sequencing of human FSH receptor cDNA. Biochem Biophys Res Commun 175:1125–1130PubMedCrossRefGoogle Scholar
  22. Pettersson K, Ding Y- Q, Huhtaniemi I (1992) An immunologically anomalous luteinizing hormone variant in a healthy woman. J Clin Endocrinol Metab 74:164–171PubMedCrossRefGoogle Scholar
  23. Rannikko AS, Zhang FP, Huhtaniemi I (1995) Ontogeny of folliclestimulating hormone receptor gene expression in the rat testis and ovary. Mol Cell Endocrinol 107:196–208Google Scholar
  24. Richards JS (1994) Hormonal control of gene expression in the ovary. Endocr Rev 15:725–751PubMedGoogle Scholar
  25. Rousseau-Merck MF, Misrahi M, Atger M, Loosfelt H, Milgrom E, Berger R (1990) Localization of the human luteinizing hormone/ receptor gene (LHCGR) to chromosome 2p21. Cytogenet Cell Genet 54:77–79PubMedCrossRefGoogle Scholar
  26. Sharpe RM, Kerr JB, McKinnell C, Miller M (1994) Temporal relationship between androgen-dependent changes in the volume of seminiferous tubule fluid, lumen size and seminiferous tubule protein secretion in rats. J Reprod Fertil 101:193–198PubMedCrossRefGoogle Scholar
  27. Shenker A, Laue L, Kosugi S, Meredino JJ Jr, Minegishi T, Cutler GB Jr (1993) A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 365:652–654 Sokka T and Huhtaniemi I (1990) Ontogeny of gonadotrophin receptors and gonadotrophin stimulated cAMP production in the neonatal rat ovary. J Endocrinol 127:297–303Google Scholar
  28. Tapanainen JS, Aittomäki K, Min J, Vaskivuo T, Huhtaniemi I (1997) Men homozygous for an inactivating mutation of the follicle stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. Nat Genet 15:205–206PubMedCrossRefGoogle Scholar
  29. Toledo SP, Brunner HG, Kraaij R, Post M, Dahia PL, Hayashida CY, Kremer H, Themmen AP (1996) An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. J Clin Endocrinol Metab 81:3850–3854PubMedCrossRefGoogle Scholar
  30. Tsigos C, Latronico C, Chrousos GP (1997) Luteinizing hormone resistance syndromes. Ann NY Acad Sci 816:263–273PubMedCrossRefGoogle Scholar
  31. Weiss J, Axelrod L, Whitcomb RW, Harris PE, Crowley WF, Jameson JL (1992) Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone. N Engl J Med 326:179–183PubMedCrossRefGoogle Scholar
  32. Yano K, Kohn LD, Saji M, Kataoka N, Okuno A, Cutler GB Jr (1996) A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriongonadotrophin gene. Biochem Biophys Res Commun 220:1036–1042PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • T. Vaskivuo
  • K. Aittomäki
  • I. T. Huhtaniemi
  • J. S. Tapanainen

There are no affiliations available

Personalised recommendations