McCune-Albright Syndrome: A-rare-case report

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ivana yunita
Ratna Dewi Artati
Kwari Januar Satriono
Hadia Angriani

Abstract

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.

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