Abstract
Objective
To investigate the familial aggregation and the risk of endometriosis among the female relatives of women with endometriosis. We also compared the epidemiologic characteristics of women with and without family history of endometriosis.
Patient(s)
A total of 485 women with endometriosis and 197 infertile women without endometriosis underwent surgical investigation between August 1996 and February 2002.
Main outcome measure(s)
The relative risk of endometriosis in a first-degree relative and the association between potential risk factors was estimated by χ2 and by crude adjusted odds ratios (95% CI).
Results
Endometriosis was identified in 9.5% of first-degree relatives of women with endometriosis versus only 1% of controls. The odds ratio for endometriosis in a first-degree relative was 10.21 (95% CI 2.45–42.5; P < 0.001). In 3.9% of cases women with endometriosis reported that their mother had been diagnosed with endometriosis and 5.6% of cases that at least one sister had been diagnosed. Compared to the control group the odds ratio for the mother having endometriosis (7.99, 95% CI 1.06–60.1) or at least one sister having (11.55, 95% CI 1.56–85.59) were significantly elevated. Among women with endometriosis who reported a family history of endometriosis, and women with endometriosis who did not report a family history of endometriosis, there were no differences in demographic characteristics, body habitus, or menstrual parameters.
Conclusion(s)
Women with endometriosis have a tenfold increased risk of endometriosis in their first-degree relatives.
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References
Garcia-Velasco JA, Mahutte NG, Corona J, Zuniga V, Giles J, Arici A et al (2004) Removal of endometriomas before in vitro fertilization does not improve fertility outcomes: a matched, case-control study. Obstet Gynecol Surv 59:661–662
Olive DL, Schwartz LB (1993) Endometriosis. N Engl J Med 328:1759–1769
Panidis DK, Matalliotakis IM (1998) Subfertility associated with minimal to mild endometriosis. Main mechanisms. J Reprod Med 43:1034–1042
Simpson JL, Bischoff FZ (2002) Heritability and molecular genetic studies of endometriosis. Ann N Y Acad Sci 955:239–251 (discussion 93–95, 396–406)
Frey GH (1957) The familial occurrence of endometriosis; report of five instances and review of the literature. Am J Obstet Gynecol 73:418–421
Ranney B (1971) Endometriosis IV. Hereditary tendency. Obstet Gynecol 37:734–737
Simpson JL, Elias S, Malinak LR, Buttram VC Jr (1980) Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol 137:327–331
Baxter SW, Thomas EJ, Campbell IG (2001) GSTM1 null polymorphism and susceptibility to endometriosis and ovarian cancer. Carcinogenesis 22:63–65
Coxhead D, Thomas EJ (1993) Familial inheritance in a British population. A case control study. J Obstet Gynaecol 13:42–44
dos Reis RM, de Sa MF, de Moura MD, Nogueira AA, Ribeiro JU, Ramos ES et al (1999) Familial risk among patients with endometriosis. J Assist Reprod Genet 16:500–503
Kashima K, Ishimaru T, Okamura H, Suginami H, Ikuma K, Murakami T et al (2004) Familial risk among Japanese patients with endometriosis. Int J Gynaecol Obstet 84:61–64
Kennedy S (1999) The genetics of endometriosis. Eur J Obstet Gynecol Reprod Biol 82:129–133
Kennedy S, Mardon H, Barlow D (1995) Familial endometriosis. J Assist Reprod Genet 12:32–34
Lamb K, Hoffmann RG, Nichols TR (1986) Family trait analysis: a case-control study of 43 women with endometriosis and their best friends. Am J Obstet Gynecol 154:596–601
Moen MH, Magnus P (1993) The familial risk of endometriosis. Acta Obstet Gynecol Scand 72:560–564
Stefansson H, Geirsson RT, Steinthorsdottir V, Jonsson H, Manolescu A, Kong A et al (2002) Genetic factors contribute to the risk of developing endometriosis. Hum Reprod 17:555–559
Hadfield RM, Mardon HJ, Barlow DH, Kennedy SH (1997) Endometriosis in monozygotic twins. Fertil Steril 68:941–942
Hadfield RM, Yudkin PL, Coe CL, Scheffler J, Uno H, Barlow DH et al (1997) Risk factors for endometriosis in the rhesus monkey (Macaca mulatta): a case-control study. Hum Reprod Update 3:109–115
Moen MH (1994) Endometriosis in monozygotic twins. Acta Obstet Gynecol Scand 73:59–62
Treloar SA, O’Connor DT, O’Connor VM, Martin NG (1999) Genetic influences on endometriosis in an Australian twin sample. sueT@qimr.edu.au. Fertil Steril 71:701–710
Zondervan KT, Weeks DE, Colman R, Cardon LR, Hadfield R, Schleffler J et al (2004) Familial aggregation of endometriosis in a large pedigree of rhesus macaques. Hum Reprod 19:448–455
Guo SW, Olive DL (2007) Two unsuccessful clinical trials on endometriosis and a few lessons learned. Gynecol Obstet Invest 64(1):24–35
Matalliotakis IM, Goumenou AG, Koumantakis GE, Athanassakis I, Dionyssopoulou E, Neonaki MA et al (2003) Expression of serum human leukocyte antigen and growth factor levels in a Greek family with familial endometriosis. J Soc Gynecol Investig 10:118–121
Moen M, Bratlie A, Moen T (1984) Distribution of HLA-antigens among patients with endometriosis. Acta Obstet Gynecol Scand Suppl 123:25–27
Simpson JL, Malinak LR, Elias S, Carson SA, Radvany RA (1984) HLA associations in endometriosis. Am J Obstet Gynecol 148:395–397
American Fertility Society (1985) Revised American Fertility Society classification of endometriosis. Fertil Steril 43:351–352
Arvanitis DA, Koumantakis GE, Goumenou AG, Matalliotakis IM, Koumantakis EE, Spandidos DA (2003) CYP1A1, CYP19, and GSTM1 polymorphisms increase the risk of endometriosis. Fertil Steril 79(Suppl 1):702–709
Vigano P, Parazzini F, Somigliana E, Vercellini P (2004) Endometriosis: epidemiology and aetiological factors. Best Pract Res Clin Obstet Gynaecol 18:177–200
Gruppo italiano per lo studio dell’endometriosi (1994) Prevalence and anatomical distribution of endometriosis in women with selected gynaecological conditions: results from a multicentric Italian study. Hum Reprod 9:1158–1162
Acknowledgments
The authors thank all of the clinicians and staff of the Division of Reproductive Endocrinology and Infertility at Yale University School of Medicine for the data collection and surgeries performed on these patients.
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Matalliotakis, I.M., Arici, A., Cakmak, H. et al. Familial aggregation of endometriosis in the Yale Series. Arch Gynecol Obstet 278, 507–511 (2008). https://doi.org/10.1007/s00404-008-0644-1
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DOI: https://doi.org/10.1007/s00404-008-0644-1