Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-cd9895bd7-dk4vv Total loading time: 0 Render date: 2024-12-27T10:31:23.593Z Has data issue: false hasContentIssue false

37 - “Premature Ovarian Failure”: Characteristics, Diagnosis, and Management

from PART II - INFERTILITY EVALUATION AND TREATMENT

Published online by Cambridge University Press:  04 August 2010

By
Robert W. Rebar
Edited by
Botros R. M. B. Rizk ,
Juan A. Garcia-Velasco ,
Hassan N. Sallam  and
Antonis Makrigiannakis
Botros R. M. B. Rizk
Affiliation:
University of South Alabama
Juan A. Garcia-Velasco
Affiliation:
Rey Juan Carlos University School of Medicine,
Hassan N. Sallam
Affiliation:
University of Alexandria School of Medicine
Antonis Makrigiannakis
Affiliation:
University of Crete
Get access

Summary

“Premature ovarian failure” (POF), sometimes termed premature menopause, is an enigmatic disorder. Although generally defined as consisting of the triad of amenorrhea (primary or secondary), hypergonadotropinism, and hypoestrogenism in women younger than forty years, it is now apparent that many affected women will ovulate and even conceive after the diagnosis is established. Thus, the name itself, implying permanent ovarian dysfunction, is actually inappropriate. In this regard, suggestions that the disorder be referred to as (primary) ovarian insufficiency, hypergonadotropic hypogonadism, or hypogonadotropic amenorrhea may be more accurate.

Definitive criteria for diagnosis have not been established. However, several groups have suggested that at least four months of amenorrhea in association with menopausal levels of gonadotropins on two or more occasions should qualify as an operational definition for the disorder (1, 2).

It has become clear that clinicians who provide reproductive care for women are likely to identify individuals with POF. Estimates of the prevalence of the disorder have varied. In one study, 7 of 300 consecutive women presenting with amenorrhea had POF (3). An estimate based on several studies concluded that 0.3 percent of reproductive-aged women (or approximately 200,000 in the United States) have POF (4). The risk of experiencing menopause prior to age forty was calculated as 0.9 percent in Rochester, Minnesota, based on 1950 data (5).

THE CLINICAL SPECTRUM OF PREMATURE OVARIAN FAILURE

We compiled data from 115 consecutive women with hypergonadotropic amenorrhea seen over a ten-year period in order to characterize the clinical presentation of affected individuals (1).

Keywords

autoimmune disorderscytogenetic abnormalitiesdefective gonadotropin secretionenzymatic defectsin vitro fertilizationpremature ovarian failureX chromosomehypergonadotropic amenorrhea
Type
Chapter
Information
Infertility and Assisted Reproduction , pp. 339 - 346
Publisher: Cambridge University Press
Print publication year: 2008

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

Rebar, RW, Connolly, HV. Clinical features of young women with hypergonadotropic amenorrhea. Fertil Steril 1990;53:804–10.CrossRefGoogle ScholarPubMed
Nelson, LM, Anasti, JN, Kimzey, LM, et al. Development of luteinized graafian follicles in patients with karyotypically normal spontaneous premature ovarian failure. J Clin Endocrinol Metab 1994;79:1470–5.Google ScholarPubMed
Moraes-Ruehsen, M, Jones, GS. Premature ovarian failure. Fertil Steril 1967;18:440–61.CrossRefGoogle ScholarPubMed
Aiman, J, Smentek, C. Premature ovarian failure. Obstet Gynecol 1985;66:9–14.Google ScholarPubMed
Coulam, CB, Adamson, SC, Annegers, JF. Incidence of premature ovarian failure. Obstet Gynecol 1986;67:604–6.Google ScholarPubMed
Sherman, SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000;97:189–94.3.0.CO;2-J>CrossRefGoogle ScholarPubMed
Nelson, LM, Kimzey, LM, White, BJ, Merriam, GR. Gonadotropin suppression for the treatment of karyotypically normal spontaneous premature ovarian failure: a controlled trial. Fertil Steril 1992;57:50–5.CrossRefGoogle ScholarPubMed
Simpson, JL, Rajkovic, A. Ovarian differentiation and gonadal failure. Am J Med Genet 1999;89:186–200.3.0.CO;2-5>CrossRefGoogle ScholarPubMed
Singh, RP, Carr, DH. The anatomy and histology of XO human embryos and fetuses. Anat Rec 1966;155:369–83.CrossRefGoogle ScholarPubMed
Krauss, CM, Turksoy, RN, Atkins, L, et al. Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Engl J Med 1987;317:125–31.CrossRefGoogle Scholar
Portnoi, MF, Aboura, A, Tachdjian, G, Bouchard, P, Dewailly, D, Bourcigaux, N, Frydman, R, et al. Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients. Hum Reprod 2006;2329–34.CrossRefGoogle ScholarPubMed
Villanueva, AL, Rebar, RW. Triple-X syndrome and premature ovarian failure. Obstet Gynecol 1983;62(3 Suppl.):70–3s.Google ScholarPubMed
Wittenberger, MD, Hagerman, RJ, Sherman, SL, McConkie-Rosell, A, Welt, CK, Rebar, RW, Corrigan, EC, et al. The FMR1 premutation and reproduction. Fertil Steril 2006. DOI: 10.1016/j.fertnstert. 2006.09.004Google ScholarPubMed
Sullivan, AK, Marcus, M, Epstein, MP, Allen, EG, Anido, AE, Paquin, JJ, Yadav-Shah, M, et al. Association of FMR1repeat size with ovarian dysfunction. Hum Reprod 2005;20:402–12.CrossRefGoogle ScholarPubMed
Biglieri, EG, Herron, MA, Brust, N. 17-hydroxylation deficiency in man. J Clin Invest 1966;45:1946–54.CrossRefGoogle ScholarPubMed
Morishima, A, Grumbach, MM, Simpson, ER, Fisher, C, Qin, K. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab 1995;80:3689–98.Google ScholarPubMed
Kaufman, FR, Kogut, MD, Donnell, GN, et al. Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med 1981;304:994–8.CrossRefGoogle ScholarPubMed
Chen, YT, Mattison, DR, Feigenbaum, L, Fukui, H, Schulman, JD. Reduction in oocyte number following prenatal exposure to a diet high in galactose. Science 1981;214:1145–7.CrossRefGoogle ScholarPubMed
Liu, G, Shif, F, Blas-Machado, U, et al. Dietary galactose inhibits GDF-9 mediated follicular development in the rat ovary. Reprod Toxicol 2006;21:26–33.CrossRefGoogle ScholarPubMed
Aittomaki, K, Herva, R, Stenman, UH, et al. Clinical features of primary ovarian failure caused by a point mutation in the follicle- stimulating hormone receptor gene. J Clin Endocrinol Metab 1996;81:3722–6.Google ScholarPubMed
Baere, E, Dixon, MJ, Small, KW, et al. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation. Hum Mol Genet 2001;10:1591–600.CrossRefGoogle ScholarPubMed
Fogli, A, Rodriguez, D, Eymard-Pierre, E, et al. Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet 2003;72:1544–50.CrossRefGoogle ScholarPubMed
Di Pasquale, E, Beck-Peccoz, P, Persani, L. Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet 2004;75:106–11.CrossRefGoogle ScholarPubMed
Ahonen, P, Myllarniemi, S, Sipila, I, Perheentupa, J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 1990;322:1829–36.CrossRefGoogle Scholar
Silva de Sa, MF, Matthews, MJ, Rebar, RW. Altered forms of immunoreactive urinary FSH and LH in premature ovarian failure. Infertility 1988;11:1–11.Google Scholar
Sluss, PM, Schneyer, AL. Low molecular weight follicle-stimulating hormone receptor binding inhibitor in sera from premature ovarian failure patients. J Clin Endocrinol Metab 1992; 74:1242–6.Google ScholarPubMed
Verp, M. Environmental causes of ovarian failure. Semin Reprod Endocrinol 1983;1:101–11.CrossRefGoogle Scholar
Damewood, MD, Grochow, LB. Prospects for fertility after chemotherapy or radiation for neoplastic disease. Fertil Steril 1986; 45:443–59.Google ScholarPubMed
Bisharah, M, Tulandi, T. Laparoscopic preservation of ovarian function: an underused procedure. Am J Obstet Gynecol 2003; 188:367–70.CrossRefGoogle Scholar
Green, DM, Zevon, MA, Lowrie, G, Seigelstein, N, Hall, B., Congenital anomalies in children of patients who received chemotherapy for cancer in childhood and adolescence. N Engl J Med 1991;325:141–6.CrossRefGoogle ScholarPubMed
Morrison, JC, Givens, JR, Wiser, WL, Fish, SA. Mumps oophoritis: a cause of premature menopause. Fertil Steril 1975; 26:655–9.CrossRefGoogle ScholarPubMed
Jick, H, Porter, J. Relation between smoking and age of natural menopause. Report from the Boston Collaborative Drug Surveillance Program, Boston University Medical Center. Lancet 1977; 1:1354–5.CrossRefGoogle ScholarPubMed
LaBarbera, AR, Miller, MM, Ober, C, Rebar, RW. Autoimmune etiology in premature ovarian failure. Am J Reprod Immunol Microbiol 1988;16:115–22.CrossRefGoogle ScholarPubMed
Lucky, AW, Rebar, RW, Blizzard, RM, Goren, EM. Pubertal progression in the presence of elevated serum gonadotropins in girls with multiple endocrine deficiencies. J Clin Endocrinol Metab 1977;45:673–8.CrossRefGoogle ScholarPubMed
Bateman, BG, Nunley, WC Jr., Kitchin, JD, 3rd. Reversal of apparent premature ovarian failure in a patient with myasthenia gravis. Fertil Steril 1983;39:108–10.CrossRefGoogle Scholar
Rabinowe, SL, Berger, MJ, Welch, WR, Dluhy, RG. Lymphocyte dysfunction in autoimmune oophoritis. Resumption of menses with corticosteroids. Am J Med 1986;81:347–50.CrossRefGoogle ScholarPubMed
Hoek, A, Schoemaker, J, Drexhage, HA. Premature ovarian failure and ovarian autoimmunity. Endocr Rev 1997;18:107–34.Google ScholarPubMed
Chen, S, Sawicka, J, Betterle, C, et al. Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome, Addison's disease, and premature ovarian failure. J Clin Endocrinol Metab 1996;81:1871–6.Google ScholarPubMed
Bakalov, VK, Vanderhoof, VH, Bondy, CA, Nelson, LM. Adrenal antibodies detect asymptomatic auto-immune adrenal insufficiency in young women with spontaneous premature ovarian failure. Hum Reprod 2002;17:2096–100.CrossRefGoogle ScholarPubMed
Falorni, A, Laureti, S, Candeloro, P, et al. Steroid-cell autoantibodies are preferentially expressed in women with premature ovarian failure who have adrenal autoimmunity. Fertil Steril 2002;78:270–9.CrossRefGoogle ScholarPubMed
Turkington, RW, Lebovitz, HE. Extra-adrenal endocrine deficiencies in Addison's disease. Am J Med 1967;43:499–507.CrossRefGoogle ScholarPubMed
Betterle, C, Volpato, M, Rees Smith, B, et al. I. Adrenal cortex and steroid 21-hydroxylase autoantibodies in adult patients with organ-specific autoimmune diseases: markers of low progression to clinical Addison's disease. J Clin Endocrinol Metab 1997; 82:932–8.Google ScholarPubMed
Muechler, EK, Huang, KE, Schenk, E., Autoimmunity in premature ovarian failure. Int J Fertil 1991;36:99–103.Google ScholarPubMed
Kim, JG, Anderson, BE, Rebar, RW, LaBarbera, AR. A biotin- streptavidin enzyme immunoassay for detection of antibodies to porcine granulosa cell antigens. J Immunoassay 1991;12:447–64.CrossRefGoogle ScholarPubMed
Chiauzzi, V, Cigorraga, S, Escobar, ME, Rivarola, MA, Charreau, EH. Inhibition of follicle-stimulating hormone receptor binding by circulating immunoglobulins. J Clin Endocrinol Metab 1982; 54:1221–8.CrossRefGoogle ScholarPubMed
Miller, ME, Chatten, J. Ovarian changes in ataxia telangiectasia. Acta Paediatr Scand 1967;56:559–61.CrossRefGoogle ScholarPubMed
Rebar, RW, Morandini, IC, Erickson, GF, Petze, JE. The hormonal basis of reproductive defects in athymic mice: diminished gonadotropin concentrations in prepubertal females. Endocrinology 1981;108:120–6.CrossRefGoogle ScholarPubMed
Rebar, RW, Morandini, IC, Benirschke, K, Petze, JE. Reduced gonadotropins in athymic mice: prevention by thymic transplantation. Endocrinology 1980;107:2130–2.CrossRefGoogle ScholarPubMed
Healy, DL, Bacher, J, Hodgen, GD. Thymic regulation of primate fetal ovarian-adrenal differentiation. Biol Reprod 1985;32:1127–33.CrossRefGoogle ScholarPubMed
Rebar, RW, Miyake, A, Low, TL, Goldstein, AL. Thymosin stimulates secretion of luteinizing hormone-releasing factor. Science 1981;214:669–71.CrossRefGoogle ScholarPubMed
Gulyas, BJ, Hodgen, GD, Tullner, WW, Ross, GT. Effects of fetal or maternal hypophysectomy on endocrine organs and body weight in infant rhesus monkeys (Macaca mulatta): with particular emphasis on oogenesis. Biol Reprod 1977;16(2):216–27.CrossRefGoogle ScholarPubMed
Jones, GS, Moraes-Ruehsen, M. A new syndrome of amenorrhea in association with hypergonadotropism and apparently normal ovarian follicular apparatus. Am J Obstet Gynecol 1969;104:597–600.CrossRefGoogle ScholarPubMed
Alzubaidi, NH, Chapin, HL, Vanderhoof, VH, Calis, KA, Nelson, LM. Meeting the needs of young women with secondary amenorrhea and spontaneous premature ovarian failure. Obstet Gynecol 2002;99:720–5.Google ScholarPubMed
Manuel, M, Katayama, PK, Jones, HW Jr. The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am J Obstet Gynecol 1976;124:293–300.CrossRefGoogle ScholarPubMed
Alper, MM, Garner, PR, Seibel, MM. Premature ovarian failure. Current concepts. J Reprod Med 1986;31:699–708.Google ScholarPubMed
Metka, M, Holzer, G, Heytmanek, G, Huber, J. Hypergonadotropic hypogonadic amenorrhea (World Health Organization III) and osteoporosis. Fertil Steril 1992;57:37–41.CrossRefGoogle ScholarPubMed
Kalantaridou, SN, Naka, KK, Papanikolaou, E, Kazakos, N, Kravariti, M, Calis, KA, Paraskevaidis, EA, et al. Impaired endothelial function in young women with premature ovarian failure: normalization with hormone therapy. J Clin Endocrinol Metab 2004;89:3907–13.CrossRefGoogle ScholarPubMed
Ledger, WL, Thomas, EJ, Browning, D, Lenton, EA, Cooke, ID. Suppression of gonadotrophin secretion does not reverse premature ovarian failure. Br J Obstet Gynaecol 1989;96:196–9.CrossRefGoogle Scholar
Lutjen, P, Trounson, A, Leeton, J, et al. The establishment and maintenance of pregnancy using in vitro fertilization and embryo donation in a patient with primary ovarian failure. Nature 1984;307:174–5.CrossRefGoogle Scholar
Chan, CL, Cameron, IT, Findlay, JK, et al. Oocyte donation and in vitro fertilization for hypergonadotropic hypogonadism: clinical state of the art. Obstet Gynecol Surv 1987;42:350–62.CrossRefGoogle ScholarPubMed
Sauer, MV, Paulson, R. Oocyte donation for women who have ovarian failure. Contemp Obstet Gynecol 1989:125–35.Google Scholar
Rebar, RW, Cedars, MI. Hypergonadotropic forms of amenorrhea in young women. Endocrinol Metab Clin North Am 1992; 21:173–91.Google ScholarPubMed
Karnis, MF, Zimon, AE, Lalwani, SI, et al. Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey. Fertil Steril 2003;80:498–501.CrossRefGoogle ScholarPubMed
Practice Committee of the American Society for Reproductive Medicine. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertil Steril 2005;83:1074–5.

Save book to Kindle

To save this book to your Kindle, first ensure no-reply@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
×