Association of FSH receptor and CYP19A1 gene variations with sterility and ovarian hyperstimulation syndrome

Reproduction

Volumn 135, Issue 1, 2008, Pages 107-116

  Binder, Helge ^a   Dittrich, Ralf ^a   Hager, Ina ^a   Müller, Andreas ^a   Oeser, Sonja ^a   Beckmann, Matthias W ^a   Hamori, Miklos ^b   Fasching, Peter A ^a   Strick, Reiner ^a  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b Infertility Clinic   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ANDROSTENEDIONE; AROMATASE; ASPARAGINE; CYPROTERONE ACETATE; FOLLITROPIN RECEPTOR; ISOLEUCINE; SERINE; SEX HORMONE BINDING GLOBULIN; THREONINE; VALINE;

ACNE; ADULT; ARTICLE; ASCITES; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; FEMALE STERILITY; GENE FREQUENCY; GENE LOCUS; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HIRSUTISM; HOMOZYGOSITY; HUMAN; HYPEREMESIS GRAVIDARUM; INFERTILITY THERAPY; MAJOR CLINICAL STUDY; OLIGOMENORRHEA; OVARY HYPERSTIMULATION; OVARY HYPERTROPHY; PATHOGENESIS; POINT MUTATION; PREGNANCY; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN DISEASE;

ADULT; AROMATASE; EXONS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFERTILITY; OVARIAN HYPERSTIMULATION SYNDROME; OVARY; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PREGNANCY TRIMESTER, FIRST; RECEPTORS, FSH; REPRODUCTIVE TECHNIQUES, ASSISTED; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 38349094771     PISSN: 14701626     EISSN: None     Source Type: Journal    
DOI: 10.1530/REP-07-0276     Document Type: Article

References (42)

1. Abramov Y, Elchalal U & Schenker JG 1998a Obstetric outcome of in vitro fertilized pregnancies complicated by severe ovarian hyperstimulation syndrome: A multicenter study. Fertility and Sterility 70 1070-1076.
2. Abramov Y, Elchalal U & Schenker JG 1998b Febrile morbidity in severe and critical ovarian hyperstimulation syndrome: A multicentre study. Human Reproduction 13 3128-3131.
3. Aittomaki K, Lucena JLD, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila E-M, Lehvaslaiho H, Engel AR et al. 1995 Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82 959-968.
4. Angioni S, Portoghese E, Milano F, Melis GB & Fulghesu AM 2007 Hirsutism and hyperandrogenism associated with hyperreactio luteinalis in a singleton pregnancy: A case report. Gynecological Endocrinology 23 248-251.
5. Bao B, Garverick HA, Smith GW, Smith MF, Salfen BE & Youngquist RS 1997 Changes in messenger ribonucleic acid encoding luteinizing hormone receptor, cytochrome P450-side chain cleavage, and aromatase are associated with recruitment and selection of bovine ovarian follicles. Biology of Reproduction 56 1158-1168.
6. Beau I, Touraine P, Meduri G, Gougeon A, Desroches A, Matuchansky C, Milgrom E, Kuttenn F & Misrahi M 1998 A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. Journal of Clinical Investigation 102 1352-1359.
7. Behre HM, Greb RR, Mempel A, Sonntag B, Kiesel L, Kaltwasser P, Seliger E, Ropke F, Gromoll J, Nieschlag E et al. 2005 Significance of a common single nucleotide polymorphism in exon 10 of the follicle-stimulating hormone (FSH) receptor gene for the ovarian response to FSH: A pharmacogenetic approach to controlled ovarian hyperstimulation. Pharmacogenetics and Genomics 15 451-456.
8. Binder H, Cupisti S, Dittrich R, Einhaus F, Krieg J, Müller A, Strauss R & Beckmann MW 2004 Ovarielles Überstimulationssyndrom - u pdate. Geburtshilfe und Frauenheilkunde 64 R53-R76.
9. Butler PA 2003 Assisted reproduction in developing countries: facing up to the issues (special issue). World Health Organization Newsletter: Progress in Reproductive Health Research 63 1-2 (www.who.int/reproductive-health/hrp/progress/63/63.pdf).
10. de Castro F, Moron FJ, Montoro L, Galan JJ, Real LM & Ruiz A 2005a Re: Polymorphisms associated with circulating sex hormone levels in postmenopausal women. Journal of National Cancer Institute 97 152-153.
11. de Castro F, Moron FJ, Montoro L & Real LM 2005b Pharmacogenetics of controlled ovarian hyperstimulation. Pharmacogenomics 6 629-637.
12. Chae HD, Park EJ, Kim SH, Kim CH, Kang BM & Chang YS 2001 Ovarian hyperstimulation syndrome complicating a spontaneous singleton pregnancy: A case report. Journal of Assisted Reproduction and Genetics 18 120-123.
13. Cunha-Filho JS, Samama M, Fanchin R, Righini C, Kadoch IJ, Frydman R & Olivennes F 2003 Clinical and laboratory evaluation of hospitalized patients with severe ovarian hyperstimulation syndrome. Reproductive Biomedicine Online 6 448-451.
14. Daelemans C, Smits G, de Maertelaer V, Costagliola S, Englert Y, Vassart G & Delbaere A 2004 Prediction of severity of symptoms in iatrogenic ovarian hyperstimulation syndrome by follicle-stimulating hormone receptor Ser680Asn polymorphism. Journal of Clinical Endocrinology and Metabolism 89 6310-6315.
15. d'Alva CB, Serafini P, Motta E, Kohek MB, Latronico AC & Mendonca BB 2005 Absence of follicle-stimulating hormone receptor activating mutations in women with iatrogenic ovarian hyperstimulation syndrome. Fertility and Sterility 83 1695-1699.
16. Delbaere A, Smits G, De Leener A, Costagliola S & Vassart G 2005 Understanding ovarian hyperstimulation syndrome. Endocrine 26 285-290.
17. Delbaere A, Smits G, Vassart G & Costagliola S 2006 Genetic predictors of ovarian hyperstimulation syndrome in women undergoing in vitro fertilization. Nature Clinical Practice. Endocrinology and Metabolism 2 590-591.
18. Delvigne A & Rozenberg S 2003 Review of clinical course and treatment of ovarian hyperstimulation syndrome (OHSS). Human Reproduction Update 9 77-96.
19. Foulk RA, Martin MC, Jerkins GL & Laros RK 1997 Hyperreactio luteinalis differentiated from severe ovarian hyperstimulation syndrome in a spontaneously conceived pregnancy. American Journal of Obstetrics and Gynecology 176 1300-1302.
20. Greb RR, Grieshaber K, Gromoll J, Sonntag B, Nieschlag E, Kiesel L & Simoni M 2005 A common single nucleotide polymorphism in exon 10 of the human follicle stimulating hormone receptor is a major determinant of length and hormonal dynamics of the menstrual cycle. Journal of Clinical Endocrinology and Metabolism 90 4866-4872.
21. Gromoll J, Ried T, Holtgreve-Grez H, Nieschlag E & Gudermann T 1994 Localization of the human FSH receptor to chromosome 2p21 using a genomic probe comprising exon 10. Journal of Molecular Endocrinology 12 265-271.
22. Haimov-Kochman R, Yanai N, Yagel S, Amsalem H, Lavy Y & Hurwitz A 2004 Spontaneous ovarian hyperstimulation syndrome and HL are entities in continuum. Ultrasound Obstetrics and Gynecology 24 675-678.
23. Heckert LL, Daley IJ & Griswold MD 1992 Structural organization of the follicle-stimulating hormone receptor gene. Molecular Endocrinology 6 70-80.
24. Al-Hendy A, Moshynska O, Saxena A & Feyles V 2000 Association between mutations of the follicle-stimulating-hormone receptor and repeated twinning. Lancet 356 914.
25. Hugues JN 2002 Ovarian stimulation for assisted reproductive technologies. In Current Practices and Controversies in Assisted Reproduction, pp 102-125. Eds E Vayena, PJ Rowe & PD Griffin. World Health Organization: Geneva, Switzerland.
26. Huhtaniemi I 2000 The Parkes lecture. Mutations of gonadotrophin and gonadotrophin receptor genes: What do they teach us about reproductive physiology? Journal of Reproduction and Fertility 119 173-186.
27. Kerkela E, Skottman H, Friden B, Bjuresten K, Kere J & Hovatta O 2007 Exclusion of coding-region mutations in luteinizing hormone and follicle-stimulating hormone receptor genes as the cause of ovarian hyperstimulation syndrome. Fertility and Sterility 87 603-606.
28. Langer JE & Coleman BG 2007 Case 1: Diagnosis: hyperreactio luteinalis complicating a normal pregnancy. Ultrasound Quarterly 23 63-66.
29. De Leener A, Montanelli L, Van Durme J, Chae H, Smits G, Vassart G & Costagliola S 2006 Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology. Journal of Clinical Endocrinology and Metabolism 91 555-562.
30. Mathur RS, Alkande AV, Keay SD, Hunt LP & Jenkins JM 2000 Distinction between early and late ovarian hyperstimulation syndrome. Fertility and Sterility 73 901-907.
31. Montanelli L, Delbaere A, Carlo C, Nappi C, Smits G, Vassart G & Costagliola S 2004 A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome. Journal of Clinical Endocrinology and Metabolism 89 1255-1258.
32. Morken NH, Friberg-Otterstad UM & Kahn JA 2007 Hyperreactio luteinalis, presented as an acute abdomen. Acta Obstetricia et Gynecologica Scandinavica 86 104-106.
33. O'Leary CM, de Klerk N, Keogh J, Pennell C, de Groot J, York L, Mulroy S & Stanley FJ 2007 Trends in mode of delivery during 1984-2003: Can they be explained by pregnancy and delivery complications? British Journal of Obstetrics and Gynaecology 114 855-864.
34. Perez Mayorga M, Gromoll J, Behre HM, Gassner C, Nieschlag E & Simoni M 2000 Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSH receptor genotype. Journal of Clinical Endocrinology and Metabolism 85 3365-3369.
35. Qasim SM, Karacan M & Kemmann E 1997 An eight year review of hospitalization for ovarian hyperstimulation syndrome. Clinical and Experimental Obstetrics and Gynecology 24 49-52.
36. Rabau E, David A, Serr DM, Mashiach S & Lunenfeld B 1967 Human menopausal gonadotropins for anovulation and sterility. Results of 7 years of treatment. American Journal of Obstetrics and Gynecology 98 92-98.
37. Rizk B 2006 Ovarian Hyperstimulation Syndrome: Epidemiology, Pathophysiology, Prevention and Management. Cambridge University Press, New York, USA.
38. Sipila K & Aula P 2002 Database for the mutations of the Finnish disease heritage. Human Mutation 19 16-22.
39. Smits G, Olatunbosug O, Delbaere A, Pierson R, Vassart G & Costagliola S 2003 Ovarian hyperstimulation syndrome due to a mutation in the follicle stimulating hormone receptor. New England Journal of Medicine 349 760-766.
40. Suzuki S 2004 Comparison between spontaneous ovarian hyperstimulation syndrome and hyperreactio luteinalis. Archives of Gynecology and Obstetrics 269 227-229.
41. Vasseur C, Rodien P, Beau I, Desroches A, Gerard C, de Poncheville L, Chaplot S, Savagner F, Croue A, Mathieu E et al. 2003 A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome. New England Journal of Medicine 349 753-759.
42. Wang TH, Horng SG, Chang CL, Wu HM, Tsai YJ, Wang HS & Soong YK 2002 Human chorionic gonadotropin-induced ovarian hyperstimulation syndrome is associated with up-regulation of vascular endothelial growth factor. Journal of Clinical Endocrinology and Metabolism 87 3300-3308.