Reproductive tract function and dysfunction in women

Nature Reviews Endocrinology

Volumn 7, Issue 9, 2011, Pages 517-525

  Roy, Angshumoy ^a   Matzuk, Martin M ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN; DIETHYLSTILBESTROL; ESTROGEN; FIBROBLAST GROWTH FACTOR 8; FIBROBLAST GROWTH FACTOR RECEPTOR 1; FOLLITROPIN BETA SUBUNIT; FRAGILE X MENTAL RETARDATION PROTEIN; GONADORELIN; LUTEINIZING HORMONE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROGESTERONE; SOMATOMEDIN C;

AMENORRHEA; CARDIOVASCULAR DISEASE; CELL PROLIFERATION; CHROMOSOME ABERRATION; ENDOCRINE DISEASE; ENDOMETRIUM CANCER; ENDOMETRIUM CARCINOMA; ENVIRONMENTAL FACTOR; FEMALE GENITAL SYSTEM; FEMALE SEXUAL DYSFUNCTION; GENETIC ASSOCIATION; GENETIC DISORDER; GRANULOSA CELL; HORMONE SUBSTITUTION; HUMAN; HYPOGONADISM; HYPOGONADOTROPIC HYPOGONADISM; HYPOTHALAMUS; KALLMANN SYNDROME; LEIOMYOMA; MENSTRUAL CYCLE; METRORRHAGIA; NEISSERIA GONORRHOEAE; NUCLEAR MAGNETIC RESONANCE IMAGING; OOCYTE; OVARY POLYCYSTIC DISEASE; POINT MUTATION; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; REVIEW; SMOOTH MUSCLE; SPERMATOZOON; TUMOR SUPPRESSOR GENE; UTERINE TUBE; WART VIRUS;

FEMALE; GENITALIA, FEMALE; HUMANS; REPRODUCTION;

EID: 80052049204     PISSN: 17595029     EISSN: 17595037     Source Type: Journal    
DOI: 10.1038/nrendo.2011.79     Document Type: Review

References (92)

1. Edson, M. A., Nagaraja, A. K. & Matzuk, M. M. The mammalian ovary from genesis to revelation. Endocr. Rev. 30, 624-712 (2009).
2. DeFalco, T. & Capel, B. Gonad morphogenesis in vertebrates: divergent means to a convergent end. Annu. Rev. Cell Dev. Biol. 25, 457-482 (2009).
3. Matzuk, M. M. & Lamb, D. J. The biology of infertility: research advances and clinical challenges. Nat. Med. 14, 1197-1213 (2008).
4. Bianco, S. D. & Kaiser, U. B. The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism. Nat. Rev. Endocrinol. 5, 569-576 (2009).
5. Taylor, H. S. & Manson, J. E. Update in hormone therapy use in menopause. J. Clin. Endocrinol. Metab. 96, 255-264 (2011).
6. Matzuk, M. M. & Lamb, D. J. Genetic dissection of mammalian fertility pathways. Nat. Med. 8 (Suppl. 1), S41-S49 (2002). (Pubitemid 35175933)
7. Oakley, A. E., Clifton, D. K. & Steiner, R. A. Kisspeptin signaling in the brain. Endocr. Rev. 30, 713-743 (2009).
8. Belchetz, P. E., Plant, T. M., Nakai, Y., Keogh, E. J. & Knobil, E. Hypophysial responses to continuous and intermittent delivery of hypopthalamic gonadotropin-releasing hormone. Science 202, 631-633 (1978). (Pubitemid 9055618)
9. Haisenleder, D. J., Dalkin, A. C., Ortolano, G. A., Marshall, J. C. & Shupnik, M. A. A pulsatile gonadotropin-releasing hormone stimulus is required to increase transcription of the gonadotropin subunit genes: evidence for differential regulation of transcription by pulse frequency in vivo. Endocrinology 128, 509-517 (1991).
10. McNeilly, J. R., Brown, P., Clark, A. J. & McNeilly, A. S. Gonadotrophin-releasing hormone modulation of gonadotrophins in the ewe: evidence for differential effects on gene expression and hormone secretion. J. Mol. Endocrinol. 7, 35-43 (1991).
11. Ciccone, N. A., Xu, S., Lacza, C. T., Carroll, R. S. & Kaiser, U. B. Frequency-dependent regulation of follicle-stimulating hormone beta by pulsatile gonadotropin-releasing hormone is mediated by functional antagonism of bZIP transcription factors. Mol. Cell Biol. 30, 1028-1040 (2010).
12. Dong, J. et al. Growth differentiation factor-9 is required during early ovarian folliculogenesis. Nature 383, 531-535 (1996). (Pubitemid 26346180)
13. Matzuk, M. M., Burns, K., Viveiros, M. M. & Eppig, J. Intercellular communication in the mammalian ovary: oocytes carry the conversation. Science 296, 2178-2180 (2002). (Pubitemid 34680291)
14. Matthews, C. H. et al. Primary amenorrhoea and infertility due to a mutation in the β-subunit of follicle-stimulating hormone. Nat. Genet. 5, 83-86 (1993). (Pubitemid 23261525)
15. Layman, L. C. et al. Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene. N. Engl. J. Med. 337, 607-611 (1997). (Pubitemid 27360761)
16. Layman, L. C. et al. FSHβ gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia. J. Clin. Endocrinol. Metab. 87, 3702-3707 (2002). (Pubitemid 34879516)
17. Roy, A. C., Liao, W. X., Chen, Y., Arulkumaran, S. & Ratnam, S. S. Identification of seven novel mutations in LH β-subunit gene by SSCP. Mol. Cell. Biochem. 165, 151-153 (1996). (Pubitemid 26421266)
18. Liao, W. X., Roy, A. C., Chan, C., Arulkumaran, S. & Ratnam, S. S. A new molecular variant of luteinizing hormone associated with female infertility. Fertil. Steril. 69, 102-106 (1998). (Pubitemid 28073001)
19. Nejat, E. J. & Chervenak, J. L. The continuum of ovarian aging and clinicopathologies associated with the menopausal transition. Maturitas 66, 187-190 (2010).
20. Coulam, C. B. Premature gonadal failure. Fertil. Steril. 38, 645-655 (1982). (Pubitemid 13198261)
21. Coulam, C. B., Adamson, S. C. & Annegers, J. F. Incidence of premature ovarian failure. Obstet. Gynecol. 67, 604-606 (1986). (Pubitemid 16116286)
22. Wittenberger, M. D. et al. The FMR1 premutation and reproduction. Fertil. Steril. 87, 456-465 (2007). (Pubitemid 46394554)
23. Oostra, B. A. & Willemsen, R. FMR1: a gene with three faces. Biochim. Biophys. Acta 1790, 467-477 (2009).
24. Galloway, J. N. & Nelson, D. L. Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol. 4, 785 (2009).
25. Jacquemont, S. et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 291, 460-469 (2004). (Pubitemid 38129750)
26. Sherman, S. L. Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect? Am. J. Hum. Genet. 67, 11-13 (2000). (Pubitemid 30481539)
27. Welt, C. K., Smith, P. C. & Taylor, A. E. Evidence of early ovarian aging in fragile X premutation carriers. J. Clin. Endocrinol. Metabol. 89, 4569-4574 (2004). (Pubitemid 39244471)
28. Nelson, L. M. Clinical practice. Primary ovarian insufficiency. N. Engl. J. Med. 360, 606-614 (2009).
29. Chang, R. J. The reproductive phenotype in polycystic ovary syndrome. Nat. Clin. Pract. Endocrinol. Metab. 3, 688-695 (2007). (Pubitemid 47463708)
30. Goodarzi, M. O., Dumesic, D. A., Chazenbalk, G. & Azziz, R. Polycystic ovary syndrome: etiology, pathogenesis and diagnosis. Nat. Rev. Endocrinol. 7, 219-231 (2011).
31. Stein, I. F. & Leventhal, M. L. Amenorrhea associated with bilateral polycystic ovaries. Am. J. Obstet. Gynecol. 29, 181-191 (1935).
32. Zawadski, J. K. & Dunaif, A. in Polycystic Ovary Syndrome Vol. 19 (eds Dunaif, A., Givens, J. R. & Haseltine, F.) 377-384 (Blackwell Scientific Publications, Boston, 1992).
33. 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. 81, 19-25 (2004).
34. Palomba, S., Falbo, A., Zullo, F. & Orio, F. Jr. Evidence-based and potential benefits of metformin in the polycystic ovary syndrome: a comprehensive review. Endocr. Rev. 30, 1-50 (2009).
35. Mrsny, R. J. Lessons from nature: Pathogen-Mimetic systems for mucosal nano-medicines. Adv. Drug Deliv. Rev. 61, 172-192 (2009).
36. Suarez, S. S. Interactions of spermatozoa with the female reproductive tract: inspiration for assisted reproduction. Reprod. Fertil. Dev. 19, 103-110 (2007). (Pubitemid 46044735)
37. Ikawa, M., Inoue, N., Benham, A. M. & Okabe, M. Fertilization: a sperms journey to and interaction with the oocyte. J. Clin. Invest. 120, 984-994 (2010).
38. Chang, H. & Suarez, S. S. Rethinking the relationship between hyperactivation and chemotaxis in mammalian sperm. Biol. Reprod. 83, 507-513 (2010).
39. Suarez, S. S. Regulation of sperm storage and movement in the mammalian oviduct. Int. J. Dev. Biol. 52, 455-462 (2008).
40. Elvin, J. A., Clark, A. T., Wang, P., Wolfman, N. M. & Matzuk, M. M. Paracrine actions of growth differentiation factor-9 in the mammalian ovary. Mol. Endocrinol.13, 1035-1048 (1999). (Pubitemid 30645319)
41. Varani, S. et al. Knockout of pentraxin 3, a downstream target of growth differentiation factor-9, causes female subfertility. Mol. Endocrinol. 16, 1154-1167 (2002). (Pubitemid 34621066)
42. Pangas, S. A., Jorgez, C. J. & Matzuk, M. M. Growth differentiation factor 9 regulates expression of the bone morphogenetic protein antagonist gremlin. J. Biol. Chem. 279, 32281-32286 (2004). (Pubitemid 39014678)
43. Elvin, J. A., Yan, C. & Matzuk, M. M. Growth differentiation factor-9 stimulates progesterone synthesis in granulosa cells via a prostaglandin E2/EP2 receptor pathway. Proc. Natl Acad. Sci. USA 97, 10288-10293 (2000).
44. Teves, M. E. et al. Progesterone at the picomolar range is a chemoattractant for mammalian spermatozoa. Fertil. Steril. 86, 745-749 (2006). (Pubitemid 44306995)
45. Oren-Benaroya, R., Orvieto, R., Gakamsky, A., Pinchasov, M. & Eisenbach, M. The sperm chemoattractant secreted from human cumulus cells is progesterone. Hum. Reprod. 23, 2339-2345 (2008).
46. Lydon, J. P. et al. Mice lacking progesterone receptor exhibit pleiotropic reproductive abnormalities. Genes Dev. 9, 2266-2278 (1995).
47. Teves, M. E. et al. Molecular mechanism for human sperm chemotaxis mediated by progesterone. PloS ONE 4, e8211 (2009).
48. Soyal, S. M. et al. Cre-mediated recombination in cell lineages that express the progesterone receptor. Genesis 41, 58-66 (2005). (Pubitemid 40365659)
49. Shao, R. et al. Nuclear progesterone receptor A and B isoforms in mouse fallopian tube and uterus: implications for expression, regulation, and cellular function. Am. J. Physiol. Endocrinol. Metab. 291, E59-E72 (2006). (Pubitemid 44035310)
50. Wånggren, K., Stavreus-Evers, A., Olsson, C., Andersson, E. & Gemzell-Danielsson, K. Regulation of muscular contractions in the human Fallopian tube through prostaglandins and progestagens. Hum. Reprod. 23, 2359-2368 (2008).
51. Nutu, M. et al. Distribution and hormonal regulation of membrane progesterone receptors beta and gamma in ciliated epithelial cells of mouse and human fallopian tubes. Reprod. Biol. Endocrinol. 7, 89 (2009).
52. Mahmood, T., Saridogan, E., Smutna, S., Habib, A. M. & Djahanbakhch, O. The effect of ovarian steroids on epithelial ciliary beat frequency in the human fallopian tube. Hum. Reprod. 13, 2991-2994 (1998). (Pubitemid 28521837)
53. Bylander, A. et al. Rapid effects of progesterone on ciliary beat frequency in the mouse fallopian tube. Reprod. Biol. Endocrinol. 8, 48 (2010).
54. Shaw, J. L., Dey, S. K., Critchley, H. O. & Horne, A. W. Current knowledge of the aetiology of human tubal ectopic pregnancy. Hum. Reprod. Update 16, 432-444 (2010).
55. Bernstein, E. et al. Dicer is essential for mouse development. Nat. Genet. 35, 215-217 (2003). (Pubitemid 37363172)
56. Nagaraja, A. K. et al. Deletion of Dicer in somatic cells of the female reproductive tract causes sterility. Mol. Endocrinol. 22, 2336-2352 (2008).
57. Hong, X., Luense, L. J., McGinnis, L. K., Nothnick, W. B. & Christenson, L. K. Dicer1 is essential for female fertility and normal development of the female reproductive system. Endocrinology 149, 6207-6212 (2008).
58. Gonzalez, G. & Behringer, R. R. Dicer is required for female reproductive tract development and fertility in the mouse. Mol. Reprod. Dev. 76, 678-688 (2009).
59. Pan, Q. & Chegini, N. MicroRNA signature and regulatory functions in the endometrium during normal and disease states. Semin. Reprod. Med. 26, 479-493 (2008).
60. Blackburn, S. T. Maternal, Fetal & Neonatal Physiology: a Clinical Perspective (Saunders Elsevier, 2007).
61. Cole, L. A. Biological functions of hCG and hCG-related molecules. Reprod. Biol. Endocrinol. 8, 102 (2010).
62. Cole, L. A. New discoveries on the biology and detection of human chorionic gonadotropin. Reprod. Biol. Endocrinol. 7, 8 (2009).
63. Lim, H. J. & Wang, H. Uterine disorders and pregnancy complications: insights from mouse models. J. Clin. Invest. 120, 1004-1015 (2010).
64. Wang, H. & Dey, S. K. Roadmap to embryo implantation: clues from mouse models. Nat. Rev. Genet. 7, 185-199 (2006). (Pubitemid 43361530)
65. Franco, H. L., Jeong, J. W., Tsai, S. Y., Lydon, J. P. & DeMayo, F. J. In vivo analysis of progesterone receptor action in the uterus during embryo implantation. Semin. Cell Dev. Biol. 19, 178-186 (2008).
66. Härkki, P., Tiitinen, A. & Ylikorkala, O. Endometriosis and assisted reproduction techniques. Ann. NY Acad. Sci. 1205, 207-213 (2010).
67. Dietrich, J. E. An update on adenomyosis in the adolescent. Curr. Opin. Obstet. Gynecol. 22, 388-392 (2010).
68. Mazur, M. T. & Kurman, R. J. Diagnosis of Endometrial Biopsies and Curettings: a Practical Approach (Springer, 2005).
69. Brahma, P. K., Martel, K. M. & Christman, G. M. Future directions in myoma research. Obstet. Gynecol. Clin. North Am. 33, 199-224 (2006).
70. Marsh, E. E. & Bulun, S. E. Steroid hormones and leiomyomas. Obstet. Gynecol. Clin. North Am. 33, 59-67 (2006).
71. Yoshida, S. et al. Cell-type specific actions of progesterone receptor modulators in the regulation of uterine leiomyoma growth. Semin. Reprod. Med. 28, 260-273 (2010).
72. Ishikawa, H. et al. Progesterone is essential for maintenance and growth of uterine leiomyoma. Endocrinology 151, 2433-2442 (2010).
73. Chwalisz, K. et al. Selective progesterone receptor modulator development and use in the treatment of leiomyomata and endometriosis. Endocr. Rev. 26, 423-438 (2005). (Pubitemid 40686652)
74. Farquhar, C. M. & Steiner, C. A. Hysterectomy rates in the United States 1990-1997. Obstet. Gynecol. 99, 229-234 (2002). (Pubitemid 34113994)
75. Parker, W. H. Uterine myomas: management. Fertil. Sterili. 88, 255-271 (2007). (Pubitemid 47212168)
76. Jemal, A., Siegel, R., Xu, J. & Ward, E. Cancer Statistics, 2010. CA Cancer J. Clin. 60, 277-300 (2010).
77. Shang, Y. Molecular mechanisms of oestrogen and SERMs in endometrial carcinogenesis. Nat. Rev. Cancer 6, 360-368 (2006).
78. Randall, T. C. & Kurman, R. J. Progestin treatment of atypical hyperplasia and well-differentiated carcinoma of the endometrium in women under age 40. Obstet. Gynecol. 90, 434-440 (1997). (Pubitemid 27357938)
79. Wu, H. et al. Hypomethylation-linked activation of PAX2 mediates tamoxifen-stimulated endometrial carcinogenesis. Nature 438, 981-987 (2005). (Pubitemid 43093965)
80. Klotz, D. M. et al. Requirement of estrogen receptor-alpha in insulin-like growth factor-1 (IGF-1)-induced uterine responses and in vivo evidence for IGF-1/estrogen receptor cross-talk. J. Biol. Chem. 277, 8531-8537 (2002). (Pubitemid 34968316)
81. Tashiro, H. et al. Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies. Cancer Res. 57, 3935-3940 (1997). (Pubitemid 27427679)
82. Di Cristofano, A. & Ellenson, L. H. Endometrial carcinoma. Annu. Rev. Pathol. 2, 57-85 (2007). (Pubitemid 46448060)
83. Kim, T. H. et al. The synergistic effect of Mig-6 and Pten ablation on endometrial cancer development and progression. Oncogene 29, 3770-3780 (2010).
84. Risinger, J. I., Maxwell, G. L., Berchuck, A. & Barrett, J. C. Promoter hypermethylation as an epigenetic component in type I and type II endometrial cancers. Ann. NY Acad. Sci. 983, 208-212 (2003). (Pubitemid 36399333)
85. Aarnio, M. et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int. J. Cancer 81, 214-218 (1999). (Pubitemid 29144749)
86. Bast, R. C. Jr, Hennessy, B. & Mills, G. B. The biology of ovarian cancer: new opportunities for translation. Nat. Rev. Cancer 9, 415-428 (2009).
87. Cho, K. R. & Shih Ie, M. Ovarian cancer. Annu. Rev. Pathol. 4, 287-313 (2009).
88. Schiffman, M., Castle, P. E., Jeronimo, J., Rodriguez, A. C. & Wacholder, S. Human papillomavirus and cervical cancer. Lancet 370, 890-907 (2007). (Pubitemid 47371147)
89. WHO/ICO Information Centre on HPV and Cervical Cancer (HPV Information Centre) Human Papillomavirus and Related Cancers in World Summary Report 2010 [online], www.who.int/hpvcentre/en/ (2010).
90. Fernández, M. E., Allen, J. D., Mistry, R. & Kahn, J. A. Integrating clinical, community, and policy perspectives on human papillomavirus vaccination. Annu. Rev. Public Health 31, 235-252 (2010).
91. Bapat, S. A. Human ovarian cancer stem cells. Reproduction 140, 33-41 (2010).
92. Yap, T. A., Carden, C. P. & Kaye, S. B. Beyond chemotherapy: targeted therapies in ovarian cancer. Nat. Rev. Cancer 9, 167-181 (2009).