McCune-Albright syndrome (MAS) is a rare genetic disordered originally recognized by the triad of polyostotic fibrous dysplasia, precocious puberty, and cafe-au-late spots. We report a case of 2 years-11-month-old girl who came with complaints of menstruation 5 days ago. Breasts appear enlarged. On physical examination, it appears that the café au lait region of the abdomen and left femur resembles the "coast of Maine". There was an increase in the levels of FT4, estradiol, and alkaline phosphatase, and low TSHs, LH, and FSH levels. The radiological examination of the bones of the left hand corresponded to the bone age of 6 years. Bone survey photo showing multiple lytic and blastic lesions in the proximal 1/3 of the left femur. We are monitoring this patient, and planning to administer Tamoxifen and Zoledronic acid. Tamoxifen (an estrogen agonist/antagonist) or Letrozole (an aromatase inhibitor) have been used for the management of precocious puberty and rapid bone maturation. Despite differing in presentation, all patients with precocious puberty were successfully treated with Tamoxifen and/or Letrozole, to emphasize the significant progress of bone age. A systematic approach to diagnosis and management is essential to optimize outcomes for patients with MAS, especially with fibrous dysplasia. No medical therapy is able to change the course of the disease in fibrous dysplasia. However, screening and treatment for endocrinopathy can reduce some bone morbidities.
2. Mardiato, Maulina F. McCune-albright syndrome (MAS).J Averrous,2019;5(2)
3. Zhai X, Duan L, Yao Y, Xing B, Deng K, Wang L, et al. Clinical characteristics and management of patients with McCune-albright syndrome with GH excess and precocious puberty: a case series and literature review. Frontiers in Endocrinol. 2021.
4. Holbrook L, Brady R. McCune Albright syndrome. StatPearls[internet]. 2022. Available from URL: https://www.ncbi.nlm.nih.gov/books/NBK537092/ [accessed on Oct 6th, 2022]
5. Spencer T, Pan KS, Collins MT, Boyce AM. The clinical spectrum of McCune-albright syndrome and its management. Horm Res Paediatr 2019;92:347-356
6. Wang X, Yi Q. Management of precocious puberty in girls with McCune-albright syndrome using letrozole. Bioscientifica. 2018
7. Dean L. McCune-albright syndrome. Medical Genetics Summ. 2012
8. Kota AS, Ejaz S. Precocious puberty. StatPearls[internet]. 2022. Available from URL: https://www.ncbi.nlm.nih.gov/books/NBK544313/ [accessed on Oct 6th, 2022]
9. Boyce AM, Florenzano P, de Castro LF, et al. Fibrous Dysplasia/McCune-Albright Syndrome. 2015 Feb 26 [Updated 2019 Jun 27]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews®
10. Babeer GA, Agha AE, Alshugair RM. McCune-albright syndrome in an 18month-old female patient: a case report. Curr Pediatr Res 2018,22(2):159-162
11. Hou JW. McCune-Albright Syndrome: Diagnosis and clinical course in eleven patients. Pediatr Neonatol. 2018;59:418-20
12. Florenzano P, Pan KS, Brown SM, et al. Age-Related Changes and Effects of Bisphosphonates on Bone Turnover and Disease Progression in Fibrous Dysplasia of Bone. J Bone Miner Res. 2019 Jan 15
13. Chapurlat R, Legrand MA. Bisphosphonates for the treatment of fibrous dysplasia of bone. Bone. 2021 Feb. 143:115784
14. Javaid MK, Boyce A, Dijkstra NA, 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;14:139-55
15. Faizi, M, Artati RD, Pulungan, AB. Diagnosis dan Tatalaksana Pubertas Prekoks Sentral.IDAI 2017