Skip to main content
SpringerLink
Log in

Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports

  • Case Report
  • Published:
Reproductive Medicine and Biology

Abstract

Purpose

Pubertal onset and sexual development are usually normal in 47, XXX individuals; however, we report two cases of premature ovarian failure (POF) in infertile women with trisomy X.

Methods

Chromosome analysis was conducted with G-banding and fluorescence in situ hybridization using X- and Y-bearing probe. Hormonal administration was primarily Kaufmann’s treatment or long-term estradiol treatment, followed by withdrawal bleeding from estrogen and progesterone.

Results

Two patients with trisomy X, aged 31 (patient 1) and 27 years (patient 2), were diagnosed with POF due to hypergonadotropic hypogonadism. Their ovaries were small. Patient 1 had a FSH level of 44.6 mIU/ml and patient 2 had a FSH level of 74.6 mIU/ml. In patient 1, with Kaufmann’s treatment, the FSH decreased to 13.5 mIU/ml; however, follicle growth did not occur following HMG stimulation. In patient 2, FSH did not decrease despite Kaufmann’s treatment; therefore, she was given a GnRH agonist and her FSH level decreased to 7.1 mIU/ml. However, her ovaries never responded to HMG stimulation.

Conclusion

We report on two patients with a 47, XXX karyotype who became infertile due to POF. We recommend that when a patient is diagnosed with trisomy X, the possibility of POF must be strongly considered.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Otter M, Schrander-Stumpel CT, Curfs LM. Triple X syndrome: a review of the literature. Eur J Hum Genet. 2010;18:265–71.

    Article  PubMed  Google Scholar 

  2. Jacobs P, Baikie A, Brown W, Macgregor T, Maclean N, Harnden D. Evidence for the existence of the human “superfemale”. Lancet. 1959;2:423–5.

    Article  PubMed  CAS  Google Scholar 

  3. Lin HJ, Ndifochu F, Patell S. Exstrophy of the cloaca in a 47, XXX child: review of genitourinary malformations in triple-X patients. Am J Med Genet. 1993;45:761–3.

    Article  PubMed  CAS  Google Scholar 

  4. Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. A review of trisomy X (47, XXX). Orphanet J Race Dis. 2010;5:1–9.

    Article  Google Scholar 

  5. Ishizuka B. Premature ovarian failure. In: Ishizuka B, Suzuki S, editors. Ovarian studies for reproduction. Tokyo: Ishiyaku-Syupan; 2010. p. 130–47.

  6. Villauva AL, Rebar RW. Triple-X syndrome and premature ovarian failure. Obstet Gynecol. 1983;62(3 Supplement):70s–3s.

    Google Scholar 

  7. Menon V, Edwards RL, Butt WR, Bluck M, Lynch SS. Review of 59 patients with hypergonadotrophic amenorrhoea. Br J Obstet Gynaecol. 1984;91:63–6.

    Google Scholar 

  8. Itu M, Neelam T, Ammini AC, Kucheria K. Primary amenorrhoea in a triple X female. Aust NZ J Obstet Gynaecol. 1990;30:386–8.

    Article  CAS  Google Scholar 

  9. Tungphaisal S, Jinorose U. True 47, XXX in a patient with premature ovarian failure: the first reported case in Thailand. J Med Assoc Thai. 1992;75:661–5.

    PubMed  CAS  Google Scholar 

  10. Holland CM. 47, XXX in an adolescent with premature ovarian failure and autoimmune disease. J Pediatr Adolesc Gynaecol. 2001;14(2):77–80.

    Article  CAS  Google Scholar 

  11. Skałba P, Cygal A, Gierzyńska Z. A case of premature ovarian failure (POF) in a 31-year-old woman with a 47 XXX karyotype. Pol J Endocrinol. 2010;61:217–9.

    Google Scholar 

  12. Deng HX, Abe K, Kondo I, Tsukahara M, Inagaki H, Hamada I, et al. Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs. Hum Genet. 1991;86:541–4.

    Article  PubMed  CAS  Google Scholar 

  13. Michalak D, Zacur HA, Rock JA. Woodruff JD. Autoimmunity in patient with 47, XXX karyotype. Obst Gynecol. 1983;62:667–9.

    Google Scholar 

  14. Goswami R. Prevalence of triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders. Fertil Steril. 2003;80:1052–4.

    Article  PubMed  Google Scholar 

  15. Lanoble L, Kaplan G. Systemic lupus erythematosus in women with primary 47 XXX hypogonadism. Rev Med Interne. 1987;8:430–2.

    Article  Google Scholar 

  16. Harmon RJ, Bender BG, Linden MG, Robinson A. Transition from adolescence to early adulthood: adaptation and psychiatric status of women with 47, XXX. J Am Acad Child Adolesc Psychiatr. 1998;37:286–91.

    Article  CAS  Google Scholar 

  17. Swerdlow AJ, Schoemaker MJ, Higgins CD. Mortality and cancer incidence with women with extra X chromosomes: a cohort study in Britain. Hum Genet. 2005;118:255–60.

    Article  PubMed  Google Scholar 

  18. Tuner’s syndrome. In Wikipedia. Retrieved 9 May 2013.http://en.wikipedia.org/wiki/Turner_syndrome.

Download references

Author information

Authors and Affiliations

  1. Iwaki Women’s Clinic, 3-2 Ookishita, Uchigo, Iwaki, Fukushima, 973-8403, Japan

    Nobuo Sugawara, Machiko Maeda, Tomomi Manome & Rie Nagai

  2. Institute for Advanced Reproductive Medical Technology, 909-21 Ishii, Fujimi, Maebashi, Gunma, 371-0105, Japan

    Yasuhisa Araki

Authors
  1. Nobuo Sugawara
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Machiko Maeda
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Tomomi Manome
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Rie Nagai
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Yasuhisa Araki
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Nobuo Sugawara.

About this article

Cite this article

Sugawara, N., Maeda, M., Manome, T. et al. Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports. Reprod Med Biol 12, 193–195 (2013). https://doi.org/10.1007/s12522-013-0158-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12522-013-0158-9

Keywords

Search

Navigation