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  • Print publication year: 2017
  • Online publication date: March 2017

12 - Genetics of Ovarian Hyperstimulation Syndrome

1.Rizk, B, Smitz, J. Ovarian hyperstimulation syndrome after superovlation for IF and related procedures Hum Reprod 2002;7:320327.
2.Rizk, B, Aboulghar, M A. Classification, pathophysiology and management of ovarian hyperstimulation syndrome. In: Brinsden, P, Ed. A Textbook of In-vitro Fertilization and Assisted Rperoduction, third edition. London: Taylor and Francis, 2005; Chapter 12, pp. 217258.
3.Vasseur, C, Rodien, P, Beau, I, et al. A chorionic gonadotrophin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome. N Engl J Med 2003;349(8):753759.
4.Montanelli, L, Delbaere, A, Di Carlo, C, et al. A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome. J Clin Endocrinol Metab 2004;89:12551258.
5.Kaiser, U B. The pathogenesis of the ovarian hyperstimulation syndrome. N Engl J Med 2003;349:729732.
6.Simoni, M, Nieschlag, E, Gromoll, J. Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction. Hum Reprod Update 2002;8:413421.
7.Olijve, W, de Boer, W, Mulders, J W M, et al. Molecular biology and biochemistry of human recombinant follicle stimulating hormone (Puregon®) Mol Hum Reprod 1996;2(5):371382.
8.Edwards, R G, Risquez, F (Eds). Modern Assisted Conception. Cambridge: UK Reproductive Biomedicine Online, Reproductive Healthcare Ltd, 2003, pp. 6670.
9.Schuler, M A, Scammell, J G. Pharmacodynamics and pharmacokinetics of gonadotrophins. In: Rizk, B, Garcia-Velasco, J A, Sallam, H N, Makrigiannakis, A, Eds. Infertility and Assisted Reproduction. Cambridge: Cambridge University Press, 2008, Chapter 25, pp. 228234.
10.Simoni, M, Gromoll, J, Nieschlag, E. The follicle stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev 1997;18:739773.
11.Montanelli, L, Van Durme, J J, Smits, G, et al. Modulation of ligand selectivity associated with activation of the transmembrane region of the human follitropin receptor. Mol Endocrinol 2004;18:20612073.
12.Vlaeminck-Guillem, V, Ho, S C, Rodien, P, et al. Activation of the cAMP pathway by the TSH receptor in volves switching of the ectodomain from a tethered inverse agonist to an agonist. Mol Endocrinol 2002;16:736746.
13.Rousseau-Merck, M F, Atger, M, Loosfelt, H, et al. The chromosomal localization of the human follicle-stimulating hormone receptor (FSHR) gene on 2p21-p16 is similar to that of the luteinizing hormone receptor gene. Genomics 1993;15:222224.
14.Gromoll, J, Ried, T, Holtgreve-Grez, H, et al. Localization of the human FSH receptor to chromosome 2p21 using a genomic probe comprising exon 10. J Mol Endocrinol 1994;12:265271.
15.Themmen, H P N, Huhtaniemi, I T. Mutations of gonadotrophins and gonadotrophin receptors: elucidating the physiology and pathophysiology of pituitary–gonadal function. Endocr Rev 2000;21:551583.
16.Aittomaki, K, Dieguez-Lucena, J I, Pakarinen, P, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995;82:959968.
17.Gromoll, J, Simoni, M, Nieschlag, E. An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. J Clin Endocrinol Metab 1996;81:13671370.
18.Whithney, E A, Layman, L C, Chan, P J, et al. The follicle-stimulating hormone receptor gene is polymorphic in premature ovarian failure and normal controls. Fertil Steril 1995;64:518524.
19.De Castro, R, Ruiz, R, Montoro, L, et al. Role of follicle-stimulating hormone receptor Ser680Asn polymorphism in the efficacy of follicle stimulating hormone. Fertil Steril 2003;80(3):571576.
20.Sallam, H N, Rizk, B, Garcia-Velasco, J A. The prediction and management of poor responders in ART. In: Rizk, B, Garcia-Velasco, J A, Sallam, H N, Makrigiannakis, A, Eds. Infertility and Assisted Reproduction. Cambridge: Cambridge University Press; 2008, Chapter 47, pp. 428442.
21.Perez Mayorga, M, Gromoll, J, Behre, H M, et al. Ovarian response to follicle stimulating hormone (FSH) stimulation depends on the FSH receptor genotype. J Clin Endocrinol Metab 2000;85:33653369.
22.Sudo, S, Kudo, M, Wada, S, et al. Genetic and functional analyses of polymorphisms in the human FSH receptor gene. Mol Hum Reprod 2002;8:893899.
23.Laven, J S, Mulders, A G, Suryandari, D A, et al. Follicle stimulating hormone receptor polymorphisms in women with normogonadotrophic anovulatory infertility. Fertil Steril 2003;80:986992.
24.Daelemans, C, Smits, G, de Maerlelaer, V, et al. Prediction of severity of symptoms in iatrogenic ovarian hyperstimulation syndrome by follicle stimulating hormone receptor Ser680Asn polymorphism. J Clin Endocrinol Metab 2004;89(12):63106315.
25.Smits, G, Olatunbosun, O, Delbaere, A, et al. Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor. N Engl J Med 2003;349(8):760766.
26.Delbaere, A, Smits, G, Olatunbosun, O, et al. New insights into the pathophysiology of ovarian hyperstimulation syndrome. What makes the difference between spontaneous and iatrogenic syndrome? Hum Reprod 2004;19:486489.
27.Rizk, B, Aboulghar, M A, Smitz, J, Ron El, R. The role of vascular endothelial growt factor and interleukins in the pathogenesis of severe ovarian hyperstimulation syndrme Hum Reprod Update 1997;3:255266.
28.Busso, C E, Garcia-Velasco, J A, Gomez, R, et al. Ovarian hyperstimulation syndrome. In: Rizk, B, Garcia-Velasco, J A, Sallam, H N, Makrigiannakis, A, Eds. Infertility and Assisted Reproduction. Cambridge: Cambridge University Press; 2008, Chapter 27, pp. 243257.
29.Zhao, Z Z, Nyholt, D R, Thomas, S, et al. Polymorphisms in the vascular endothelial growth factor gene and the risk of familial endometriosis. Mol Hum Reprod 2008; 14(9):531538.
30.Rodien, P, Bemont, C, Sanson, M L. Familial gestational hyperthyroidism cased by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotrophin. N Engl J Med 1998;339:18231826.