Skip to main content Accessibility help
×
Hostname: page-component-8448b6f56d-gtxcr Total loading time: 0 Render date: 2024-04-18T23:01:35.533Z Has data issue: false hasContentIssue false

12 - Genetics of Ovarian Hyperstimulation Syndrome

Published online by Cambridge University Press:  31 March 2017

Botros Rizk
Affiliation:
University of South Alabama
Jan Gerris
Affiliation:
Universiteit Gent, Belgium
Get access
Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2017

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Rizk, B, Smitz, J. Ovarian hyperstimulation syndrome after superovlation for IF and related procedures Hum Reprod 2002;7:320327.CrossRefGoogle Scholar
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.CrossRefGoogle Scholar
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.CrossRefGoogle Scholar
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.CrossRefGoogle ScholarPubMed
Kaiser, U B. The pathogenesis of the ovarian hyperstimulation syndrome. N Engl J Med 2003;349:729732.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle ScholarPubMed
Edwards, R G, Risquez, F (Eds). Modern Assisted Conception. Cambridge: UK Reproductive Biomedicine Online, Reproductive Healthcare Ltd, 2003, pp. 6670.Google Scholar
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.CrossRefGoogle Scholar
Simoni, M, Gromoll, J, Nieschlag, E. The follicle stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev 1997;18:739773.Google ScholarPubMed
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.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle Scholar
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.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle Scholar
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.CrossRefGoogle Scholar
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.CrossRefGoogle ScholarPubMed
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.Google Scholar
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.CrossRefGoogle Scholar
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.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle Scholar
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.Google ScholarPubMed
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.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle Scholar
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.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle Scholar
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.CrossRefGoogle Scholar
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.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×