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.
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11 July 2023
A Correction to this paper has been published: https://doi.org/10.1007/s10815-023-02885-x
References
Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis. 2008;3:12.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Neubig RR. Membrane organization in G-protein mechanisms. Faseb j. 1994;8(12):939–46.
Chapurlat RD, Orcel P. Fibrous dysplasia of bone and McCune-Albright syndrome. Best Pract Res Clin Rheumatol. 2008;22(1):55–69.
Happle R. The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin Genet. 1986;29(4):321–4.
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.
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.
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.
Anderson S. Café au lait macules and associated genetic syndromes. J Pediatr Health Care. 2020;34(1):71–81.
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.
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.
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.
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.
Haute Autorité de Santé HAS. Dysplasie et syndrome de McCune-Albright. Saint-Denis La Plaine: Guide maladie chronique; 2022.
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.
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.
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.
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.
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.
Lee PA, Van Dop C, Migeon CJ. McCune-Albright syndrome. Long-term follow-up. Jama. 1986;256(21):2980–4.
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.
Nabhan ZM, West KW, Eugster EA. Oophorectomy in McCune-Albright syndrome: a case of mistaken identity. J Pediatr Surg. 2007;42(9):1578–83.
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.
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.
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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.
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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
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DOI: https://doi.org/10.1007/s10815-023-02844-6