Long-Term Growth and Pubertal Outcomes After Seven Years of Treatment for Peripheral Precocious Puberty in a Girl with Mccune–Albright Syndrome: A Case Report
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Abstract
Background: McCune–Albright syndrome (MAS) is a rare sporadic disorder commonly associated with peripheral precocious puberty (PPP) in girls due to autonomous ovarian estrogen production. PPP often presents early, progresses unpredictably, and poses significant challenges to growth preservation and pubertal control.
Case summary: This is a report of the long-term growth and pubertal outcomes of an eight-year medical treatment course in a girl who presented at 15 months of age with breast and pubic hair development and cyclical vaginal bleeding. She had café-au-lait macules, markedly elevated estradiol levels with suppressed gonadotropins, advanced bone age, and pelvic ultrasonographic findings consistent with estrogen exposure, confirming PPP in the setting of MAS. Treatment with the aromatase inhibitor, anastrozole led to marked reduction in vaginal bleeding frequency and eventual cessation, stabilization of pubertal progression, and moderated bone age advancement. Anastrozole was discontinued after seven years of therapy when she was 8 years and nine months. Menarche occurred within two weeks of stoppage of therapy, and regular menstrual cycles ensued. By 16 years of age, the patient attained a near-final height of 153 cm, close to her mid-parental target height.
Conclusion: This case highlights the effectiveness of prolonged aromatase inhibitor therapy and sustained follow-up in optimizing growth and pubertal outcomes in MAS-associated PPP, particularly in resource-limited settings.
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References
⦁ Nicolaides NC, Kontou M, Vasilakis IA, Binou M, Lykopoulou E, Kanaka-Gantenbein C. McCune-Albright Syndrome: A Case report and review of literature. Int J Mol Sci. 2023; 24(10):8464. doi: 10.3390/ijms24108464. PMID: 37239810; PMCID: PMC10218573.
⦁ Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis. 2008; 3:12. doi: 10.1186/1750-1172-3-12. PMID: 18489744; PMCID: PMC2459161.
⦁ Spencer T, Pan KS, Collins MT, Boyce AM. The Clinical Spectrum of McCune-Albright syndrome and its management. Horm Res Paediatr. 2019; 92(6):347-356. doi: 10.1159/000504802. Epub 2019 Dec 19. PMID: 31865341; PMCID: PMC7302983.
⦁ Bergignat S, Chapurlat R, Nicolino M, Perge K. Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center. Front Endocrinol (Lausanne). 2025;16: 1531765. doi: 10.3389/fendo.2025.1531765. PMID: 40078582; PMCID: PMC11896858.
⦁ Ferrigno, R., Pellino, V., Savanelli, M.C. et al. Growth and pubertal outcome of three-years medical treatment of peripheral precocious puberty in a boy with McCune-Albright Syndrome: a case report. BMC Pediatr 25, 800 (2025). https://doi.org/10.1186/s12887-025-06157-8
⦁ Foster, C.M. Ross, J.L, Shawker, T, Pescovitz, O.H, Loriaux, D.L, Cutler, G.B. Jr, Comite, F. Absence of Pubertal Gonadotropin Secretion in Girls with McCune-Albright Syndrome, The Journal of Clin Endocrin & Metabol, 1984; 58 (6), 1161–1165, https://doi.org/10.1210/jcem-58-6-1161.
Comite, F,⦁ Shawker, TH, Crowley, WF, Loriaux, DL, Cutler, GB. Mechanism of precocious puberty in McCune-Albright syndrome (MAS). Pediatr Res 1981; 15, 1548. https://doi.org/10.1203/00006450-198112000-00077.
⦁ Faria AG, Montenegro LR, Jorge AAL, et al. Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series. Arch Endocrinol Metab. 2025 May 14; 69(2):e240459. doi: 10.20945/2359-4292-2024-0459. PMID: 40366083; PMCID: PMC12077304.
⦁ Wang X, Yu Q. Management of precocious puberty in girls with McCune-Albright syndrome using letrozole. Endocr Connect. 2018; 7(12):1424-1431. doi: 10.1530/EC-18-0344. PMID: 30475223; PMCID: PMC6300860.
⦁ Fourie, J., Suleman, F., Lockhat, Z., & Kollapen, K. Fibrous dysplasia: A tale of two syndromes. South Afri J Radiol 2024; 28(1), 5. doi:⦁ https⦁ ://doi.org/10.4102/sajr.v28i1.2877.
⦁ Kabali, T.M., Moshy, J.R., Owibingire, S.S. et al. Craniofacial fibrous dysplasia associated with McCune-Albright syndrome: challenges in diagnosis and treatment: case reports. BMC Oral Health 2019; 19: 180. https://doi.org/10.1186/s12903-019-0872-8.
⦁ Seewoolall V. McCune-Albright Syndrome: A case from Mauritius. Cureus. 2024; 16(11):e72810. doi: 10.7759/cureus.72810. PMID: 39618732; PMCID: PMC11608397.
⦁ 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; 14:139. doi: 10.1186/s13023-019-1102-9 [⦁ DOI] [⦁ PMC free article] [⦁ PubMed] [⦁ Google Scholar]
⦁ Mieszczak J, Eugster EA. Treatment of precocious puberty in McCune-Albright syndrome. Pediatric Endocrinology Reviews: PER. 2007; 4:419-422. PMID: 17982389; PMCID: PMC4118734.
⦁ Gryngarten M, Comar H, Arcari A, Boulgourdjian E, Escobar ME. McCune-Albright syndrome, a rare form of precocious puberty: diagnosis, treatment, and follow-up. Arch Argent Pediatr 2021; 119(5):e420-e427.
⦁ Estrada A, Boyce AM, Brillante BA, Guthrie LC, Gafni RI, Collins MT. Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome. Eur J Endocrinol. 2016; 175(5):477-483. doi: 10.1530/EJE-16-0526. Epub 2016 Aug 25. PMID: 27562402; PMCID: PMC5066167.
⦁ Kim YJ, Cohen PR. Anastrozole-Induced Dermatitis: Report of a Woman with an Anastrozole-Associated Dermatosis and a Review of Aromatase Inhibitor-Related Cutaneous Adverse Events. Dermatol Ther (Heidelb). 2020; 10(1):221-229. doi: 10.1007/s13555-020-00353-3. Epub 2020 Jan 21. PMID: 31965545; PMCID: PMC6994559.