PUBERTAS PREKOK PADA SINDROM McCUNE-ALBRIGHT

RIANTI PUJI LESTARI, dr. Retno Sutomo PhD, SpAK , Porf. dr.Madarina Julia, MPH,PhD,SpAK

2017 | Tesis-Spesialis | SP ILMU KESEHATAN ANAK

Sindrom McCune-Albright merupakan penyakit langka yang ditandai dengan trias displasia fibrosa, makula cafe-au-lait dan pubertas prekok perifer. Kami melaporkan anak perempuan usia 5 tahun 8 bulan yang telah kami amati selama 2 tahun 8 bulan. Pasien datang ke poliklinik endokrinologi di rumah sakit kami dengan keluhan perdarahan pervaginam pada usia 2 tahun 11 bulan. Ia mengalami pubertas prekok perifer yang ditandai dengan peningkatan kadar estrogen dan rendahnya kadar gonadotropin,, makula cafe-au-lait, dan didiagnosis dengan sindrom McCune-Albright. Pasien diterapi dengan penghambat reseptor estrogen (tamoxifen). Selama terapi, siklus menstruasi terhenti, kecepatan pertumbuhan dan maturasi tulang dalam batas normal. Namun pada akhir terapi dengan tamoxifen, pasien kembali mengalami perdarahan pervaginam sehingga kami harus mengganti dengan modalitas terapi yang lain.

McCune-Albright syndrome (MAS) is a rare disease characterized by a triad of fibrous dysplasia, cafe-au-lait spots and peripheral precocious puberty. We reported a 5-year-8-month old girl with MAS who has been followed-up for 2 years and 8 months. She was referred to pediatric endocrinology clinic in our hospital for vaginal bleeding at age of 2 years 11 months. She had peripheral precocious puberty, i.e. increased estrogen level associated with very low gonadotropins, and cafe-au-lait spots on her face and was diagnosed as MAS. The patient was treated with estrogen receptor blocker (tamoxifen). She had no menses during the 2 years and 8 months of tamoxifen treatment. Her growth rate and bone maturation were also in normal ranges. However, at the end of tamoxifen treatment she had an episode of vaginal bleeding so that we had to change to other treatment modalities

Kata Kunci : McCune-Albright syndrome, precocious puberty, tamoxifen