Skip to main content
Log in

Successful ART outcome in a woman with McCune-Albright syndrome: a case report and literature review

  • Assisted Reproduction Technologies
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

A Correction to this article was published on 11 July 2023

This article has been updated

Abstract

McCune-Albright syndrome (MAS) is a rare genetic disease affecting multiple organs, including endocrine tissues. This endocrinopathy is sometimes responsible for infertility, as it may induce an independent functioning of the ovaries leading to anovulatory cycles. This case report describes the infertility journey of a 22-year-old female who had early puberty and irregular periods with high estrogen and progesterone levels, low FSH and LH (on day 3 of her menstrual cycle), and a multi-cystic right ovary. She received several infertility treatments: initially in vitro oocyte maturation (IVM) followed by cyst transvaginal ultrasound-guided aspiration, all unsuccessful. A right hemi-ovariectomy was performed that eventually restored regular cycles and made it possible to perform ovarian stimulation (OS) and in vitro fertilization (IVF). Live birth was obtained after the first embryo transfer.

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

Access this article

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

Instant access to the full article PDF.

Fig. 1
Fig. 2

Similar content being viewed by others

Change history

References

  1. Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis. 2008;3:12.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Chanson P, Salenave S, Young J. Ovarian dysfunction by activating mutation of GS alpha: McCune-Albright syndrome as a model. Ann Endocrinol (Paris). 2010;71(3):210–3.

    Article  CAS  PubMed  Google Scholar 

  3. Agopiantz M, Sorlin A, Vabres P, Leheup B, Carmignac V, Malaplate-Armand C, et al. Fertility in McCune Albright syndrome female: a case study focusing on AMH as a marker of ovarian dysfunction and a literature review. J Gynecol Obstet Hum Reprod. 2021;50(9):102171.

    Article  PubMed  Google Scholar 

  4. Laven JS, Lumbroso S, Sultan C, Fauser BC. Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome. J Clin Endocrinol Metab. 2004;89(3):1076–8.

    Article  CAS  PubMed  Google Scholar 

  5. Chevalier N, Paris F, Fontana S, Delotte J, Gaspari L, Ferrari P, et al. Postpubertal persistent hyperestrogenemia in McCune-Albright syndrome: unilateral oophorectomy improved fertility but detected an unexpected borderline epithelial ovarian tumor. J Pediatr Adolesc Gynecol. 2015;28(6):e169–72.

    Article  PubMed  Google Scholar 

  6. Chung RK, Mancuso AC, Kresowik JD. Treatment of primary infertility in McCune-Albright syndrome: a case report of a successful in vitro fertilization cycle. F S Rep. 2021;2(3):352–6.

    PubMed  PubMed Central  Google Scholar 

  7. Obuobie K, Mullik V, Jones C, John R, Rees AE, Davies JS, et al. McCune-Albright syndrome: growth hormone dynamics in pregnancy. J Clin Endocrinol Metab. 2001;86(6):2456–8.

    Article  CAS  PubMed  Google Scholar 

  8. Collins MT, Singer FR, Eugster E. McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia. Orphanet J Rare Dis. 2012;7(Suppl 1):S4.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Lair-Milan F, Blevec GL, Carel JC, Chaussain JL, Adamsbaum C. Thyroid sonographic abnormalities in McCune-Albright syndrome. Pediatr Radiol. 1996;26(6):424–6.

    Article  CAS  PubMed  Google Scholar 

  10. Shenker A, Weinstein LS, Moran A, Pescovitz OH, Charest NJ, Boney CM, et al. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr. 1993;123(4):509–18.

    Article  CAS  PubMed  Google Scholar 

  11. Rodbell M. The role of GTP-binding proteins in signal transduction: from the sublimely simple to the conceptually complex. Curr Top Cell Regul. 1992;32:1–47.

    Article  CAS  PubMed  Google Scholar 

  12. Neubig RR. Membrane organization in G-protein mechanisms. Faseb j. 1994;8(12):939–46.

    Article  CAS  PubMed  Google Scholar 

  13. Chapurlat RD, Orcel P. Fibrous dysplasia of bone and McCune-Albright syndrome. Best Pract Res Clin Rheumatol. 2008;22(1):55–69.

    Article  CAS  PubMed  Google Scholar 

  14. Happle R. The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin Genet. 1986;29(4):321–4.

    Article  CAS  PubMed  Google Scholar 

  15. Benhamou J, Gensburger D, Messiaen C, Chapurlat R. Prognostic factors from an epidemiologic evaluation of fibrous dysplasia of bone in a modern cohort: the FRANCEDYS study. J Bone Miner Res. 2016;31(12):2167–72.

    Article  CAS  PubMed  Google Scholar 

  16. Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A, et al. Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium. Orphanet J Rare Dis. 2019;14(1):139.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. 1991;325(24):1688–95.

    Article  CAS  PubMed  Google Scholar 

  18. Anderson S. Café au lait macules and associated genetic syndromes. J Pediatr Health Care. 2020;34(1):71–81.

    Article  PubMed  Google Scholar 

  19. Mishra A, Purvar R, Malik S, Agarwal K, Gera R, Sridhar S. McCune Albright syndrome from gynaecological perspective. J Obstet Gynaecol India. 2016;66(Suppl 2):672–4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Laven JS, Lumbroso S, Sultan C, Fauser BC. Dynamics of ovarian function in an adult woman with McCune–Albright syndrome. J Clin Endocrinol Metab. 2001;86(6):2625–30.

    CAS  PubMed  Google Scholar 

  21. Kirk JM, Brain CE, Carson DJ, Hyde JC, Grant DB. Cushing’s syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome. J Pediatr. 1999;134(6):789–92.

    Article  CAS  PubMed  Google Scholar 

  22. Feuillan PP, Shawker T, Rose SR, Jones J, Jeevanram RK, Nisula BC. Thyroid abnormalities in the McCune-Albright syndrome: ultrasonography and hormonal studies. J Clin Endocrinol Metab. 1990;71(6):1596–601.

    Article  CAS  PubMed  Google Scholar 

  23. Haute Autorité de Santé HAS. Dysplasie et syndrome de McCune-Albright. Saint-Denis La Plaine: Guide maladie chronique; 2022.

    Google Scholar 

  24. Feuillan P, Calis K, Hill S, Shawker T, Robey PG, Collins MT. Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study. J Clin Endocrinol Metab. 2007;92(6):2100–6.

    Article  CAS  PubMed  Google Scholar 

  25. Schoolcraft WB, Gardner DK, Lane M, Schlenker T, Hamilton F, Meldrum DR. Blastocyst culture and transfer: analysis of results and parameters affecting outcome in two in vitro fertilization programs. Fertil Steril. 1999;72(4):604–9.

    Article  CAS  PubMed  Google Scholar 

  26. Oerter KE, Uriarte MM, Rose SR, Barnes KM, Cutler GB Jr. Gonadotropin secretory dynamics during puberty in normal girls and boys. J Clin Endocrinol Metab. 1990;71(5):1251–8.

    Article  CAS  PubMed  Google Scholar 

  27. Boyce AM, Casey RK, Ovejero Crespo D, Murdock CM, Estrada A, Guthrie LC, et al. Gynecologic and reproductive outcomes in fibrous dysplasia/McCune-Albright syndrome. Orphanet J Rare Dis. 2019;14(1):90.

    Article  PubMed  PubMed Central  Google Scholar 

  28. Collins MT, Sarlis NJ, Merino MJ, Monroe J, Crawford SE, Krakoff JA, et al. Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. J Clin Endocrinol Metab. 2003;88(9):4413–7.

    Article  CAS  PubMed  Google Scholar 

  29. Lee PA, Van Dop C, Migeon CJ. McCune-Albright syndrome. Long-term follow-up. Jama. 1986;256(21):2980–4.

    Article  CAS  PubMed  Google Scholar 

  30. Lavoué V, Morcel K, Bouchard P, Sultan C, Massart C, Grall JY, et al. Restoration of ovulation after unilateral ovariectomy in a woman with McCune-Albright syndrome: a case report. Eur J Endocrinol. 2008;158(1):131–4.

    Article  PubMed  Google Scholar 

  31. Nabhan ZM, West KW, Eugster EA. Oophorectomy in McCune-Albright syndrome: a case of mistaken identity. J Pediatr Surg. 2007;42(9):1578–83.

    Article  PubMed  Google Scholar 

  32. Guan J, Guan H-Y, Wang L, Zhang W. Mistaken oophorectomy in an adolescent with McCune-Albright syndrome: a case report and literature review. Reprod Dev Med. 2018;2(4):252–5.

    Article  Google Scholar 

  33. Chae HS, Rheu CH. Precocious pseudopuberty due to an autonomous ovarian follicular cyst: case report with a review of literatures. BMC Res Notes. 2013;6:319.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Contributions

P Pirtea: conception, data collection and interpretation, writing of the case report, corresponding author.

E Heggarty: literature review and critical revising of the article.

E Hagege: editing and critical revising of the article.

C Tran: literature review, critical revising of the article.

D De Ziegler: critical review of the manuscript.

C Farabet: literature review and data collection.

M Filali: data collection.

M Poulain: critical revising of the article.

J-M Ayoubi: surgeon, critical revising of the article.

Corresponding author

Correspondence to Paul Pirtea.

Ethics declarations

Conflict of interest

The authors declare no competing interests.

Additional information

Publisher's note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

The original online version of this article was revised: In this article, HEGGARTY was incorrectly written as Haggerty.

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Pirtea, P., Heggarty, E., Hagege, E. et al. Successful ART outcome in a woman with McCune-Albright syndrome: a case report and literature review. J Assist Reprod Genet 40, 1669–1675 (2023). https://doi.org/10.1007/s10815-023-02844-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-023-02844-6

Keywords

Navigation