Genetic analysis of the follicle stimulating hormone receptor gene in women with polycystic ovary syndrome

Journal of Endocrinological Investigation

Volumn 29, Issue 11, 2006, Pages 975-982

  Orio Jr , Francesco ^a   Ferrarini, E ^b   Cascella, T ^a   Dimida, A ^b   Palomba, S ^c   Gianetti, E ^b   Colao, A ^a   Agretti, P ^b   Vitti, P ^b   Lombardi, G ^a   Pinchera, A ^b   Tonacchera, M ^b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF PISA   (Italy)

^c UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

Author keywords

FSH receptor gene; Gene mutation; Hyperandrogenism; Insulin resistance; Polycystic ovary syndrome (PCOS)

Indexed keywords

ASPARAGINE; FOLLITROPIN RECEPTOR; GENOMIC DNA; ISOLEUCINE; CYCLIC AMP;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANTHROPOMETRY; ARTICLE; CELL STRAIN COS7; CLINICAL ARTICLE; CONTROLLED STUDY; ECHOGRAPHY; ETHNIC DIFFERENCE; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HETEROZYGOTE; HORMONE DETERMINATION; HUMAN; HUMAN CELL; ITALY; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NERVE FIBER; NONHUMAN; OVARY POLYCYSTIC DISEASE; PATHOPHYSIOLOGY; PERIPHERAL LYMPHOCYTE; POLYMERASE CHAIN REACTION; WILD TYPE; AMINO ACID SEQUENCE; ANIMAL; BIOSYNTHESIS; CELL STRAIN COS1; CERCOPITHECUS; GENETICS; NUCLEOTIDE SEQUENCE;

ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; COS CELLS; CYCLIC AMP; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; POLYCYSTIC OVARY SYNDROME; RECEPTORS, FSH;

EID: 33846977772     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03349210     Document Type: Article

References (35)

1. Ehrmann DA. Polycystic ovary syndrome. N Engl J Med 2005, 352: 1233-6.
2. Dunaif A. Insulin resistance and the polycystic ovary syndrome: mechanism and implications for pathogenesis. Endocr Rev 1997, 18: 774-800.
3. Lobo RA, Carmina E. The importance of diagnosing the polycystic ovary syndrome. Ann Int Med 2000, 132: 989-93.
4. Chang RJ, Nakamura RM, Judd HL, Kaplan SA. Insulin resistance in nonobese patients with polycystic ovarian disease. J Clin Endocrinol Metab 1983, 57: 356-9.
5. Taylor AE, McCourt B, Martin KA, et al. Determinants of abnormal gonadotropin secretion in clinically defined women with polycystic ovary syndrome. J Clin Endocrinol Metab 1997, 82: 2248-56.
6. Barnes RB, Namnoum AB, Rosenfield RL, Layman LC. The role of LH and FSH in ovarian androgen secretion and ovarian follicular development: Clinical studies in a patient with isolated FSH deficiency and multicystic ovaries. Hum Reprod 2002, 17: 88-91.
7. Greenwald GS, Roy SK. Follicular development and its control. In: Knobil E, Neill JD eds. The physiology of reproduction. 2nd ed. New York: Raven Press. 1994, 629-724.
8. Fauser BCJM. Interference with follicle stimulating hormone regulation of human ovarian function. Mol Hum Reprod 1996, 2: 327-34.
9. Hsueh AJ, Bicsak TA, Jia XC, et al. Granulosa cells as hormone targets: the role of biologically active follicle-stimulating hormone in reproduction. Recent Prog Horm Res 1989, 45: 209-77.
10. Richards JS. Maturation of ovarian follicles: actions and interactions of pituitary and ovarian hormones on follicular cell differentiation. Physiol Rev 1980, 60: 51-89.
11. Salesse R, Remy JJ, Levin JM, Jallal B, Garnier J. Towards understanding the glycoprotein hormone receptors. Biochimie 1991, 73: 109-20.
12. Doherty E, Pakarinen P, Tiitinen A, et al. A novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. J Clin Endocrinol Metab 2002, 87: 1151-5.
13. Allen LA, Achermann JC, Pakarinen P, et al. A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics. Hum Reprod 2003, 18: 251-6.
14. Beck-Pecoz P, Romoli R, Persani L. Mutations of LH and FSH receptors. J Endocrinol Invest 2000, 23: 566-72.
15. Aittomaki K, Lucena JL, Pakarinen P, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995, 82: 959-68.
16. Simoni M, Gromoll J, Nieschlag E. The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology and pathophysiology. Endocr Rev 1997, 18: 739-73.
17. Satoko S, Masataka K, Shin-ichiro W, Osamu S, Aaron JWH, Seiichiro F. Genetic and functional analyses of polymorhisms in the human FSH receptor gene. Mol Hum Reprod 2002, 8: 893-9.
18. De Leener A, Montanelli L, Ven Durne J, et al. Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology. J Clin Endocrinol Metab 2006, 91: 555-62.
19. Gromoll J, Simoni M. Genetic complexity of FSH receptor function. Trend Endocrinol Metab 2005, 16: 368-73.
20. Perez Mayorga M, Gromoll J, Behre HM, Gassner C, Nieschlag E, Simoni M. Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSH receptor genotype. J Clin Endocrinol Metab 2000, 85: 3365-9.
21. Daelemans C, Smits G, De Maertelaer 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: 6310-5.
22. Erickson GF, Magoffin DA, Garzo VG, Cheung AP, Chang RJ. Granulosa cells of polycystic ovaries: are they normal or abnormal? Hum Reprod 1992, 7: 293-9.
23. Fauser BCJM. Observations in favor of normal early follicular development and disturbed dominant follicular selection in polycystic ovary syndrome. Gynecol Endocrinol 1994, 8: 75-82.
24. Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. Fertil Steril 2004, 81: 19-25.
25. Barbieri RL. Infertility. In: Yen SSC, Yaffe RB, Barbieri RL eds. Reproductive endocrinonology: physiology, pathophisiology, and clinical management. 4th ed. Philadelphia: WB Sauders. 1999, 562-93.
26. Orio Jr F, Palomba S, Di Biase S, et al. Homocysteine levels and C677T polymorphism of methylenetetrahydrofolate reductase in women with polycystic ovary syndrome. J Clin Endocrinol Metab 2003, 88: 673-9.
27. Orio Jr F, Palomba S, Colao A, et al. Growth hormone secretion after baclofen administration in different phases of the menstrual cycle in healthy women. Horm Res 2001, 55: 131-6.
28. Orio F Jr, Palomba S, Cascella T, et al. Adrenal adenoma and normal androgen levels in a young women with polycystic ovaries: a case of idiopathic hirsutism? J Endocrinol Invest 2004, 27: 61-7.
29. Lopata MA, Cleveland DW, Sollner-Webb B. High level transient expression of a chloramphenicol acetyl transferase gene by DEAE-dextran mediated DNA transfection coupled with a dimethyl sulfoxide or glycerol shock treatment. Nucleic Acids Res 1984, 12: 5707-17.
30. Fauserc BCJM, Pache TD, Lamberts SW, Hop WC, de Jong FH, Dahl KD. Serum bibactive and immunoraective luteinizing hormone and follicle-stimulating hormone levels in women with cycle abnormalities, with and without polycystic ovarian disease. J Clin Endocrinol Metab 1991, 73: 811-7.
31. Carmina E. Genetic and environmental aspect of polycystic ovary syndrome. J Endocrinol invest 2003, 26: 1151-9.
32. Laven JSE, Mulders AGMGJ, Suryandari DA, et al. Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility. Fertil Steril 2003, 80: 986-92.
33. De Koning CH, Benjamins T, Harms P, et al. The distribution of FSH receptror isoforms is related to basal FSH levels in subfertile women with normal menstrual cycles. Hum Reprod 2006, 21: 443-6.
34. Carmina E, Chu MC, Longo RA, Rini GB, Lobo RA. Phenotypic variation in hyperandrogenic women influences the findings of abnormal metabolic and cardiovascular risk parameters. J Clin Endocrinol Metab 2005, 90: 2545-9.
35. Sudo S, Kudo M, Wada SI, Sato O, Hsueh AJ, Fujimoto S. Genetic and functional analysis of polymorphisms in the human FSH receptor gene. Mol Hum Reprod 2002, 8: 893-9.