CLINICAL AND ENDOCRINE CHARACTERISTICS OF MC-CUNE ALBRIGHT SYNDROME TREATED WITH LETROZOLE (A CASE REPORT)
Masayu Lubna,Annang Giri Moelyo
Pediatric department Medical faculty of Sebelas Maret University Endocrinology subdivision Pediatric department Medical faculty of Sebelas Maret University
Background : Mc-Cune Albright Syndrome (MAS) is a rare congenital sporadic disease defined by the triad of polyostotic fibrous dysplasia, café au lait skin pigmentation and peripheral precocious puberty. This is the first case of MAS reported in Solo. A broad spectrum of endocrinopathies monitored in patient are hyperthyroidism, growth hormone excess, hypercortisolism and renal phosphate wasting. Aromatase inhibitor or estrogen receptor modulator for peripheral precocious puberty treatment in girls gives good outcome.
Case Presentation Summary : A-5 years 4 months old girl presented with four times vaginal bleeding since she was three. The physical examination obtained hyperpigmented skin on her left body, pubertal status M2P1, X-shaped leg without history of fracture or bone pain. Laboratory findings showed estradiol level 38 pg/ml, LH level 0.18 mIU/ml, TSH 0.78 and FT4 16.61. Bone X-ray demonstrated polyostotic fibrous dysplasia in all long bones. The bone age was equal to 5 years 9 months old. Ultrasonography showed no ovarian cyst and 3.14 x 1.4 x 1.56 cm of uterine size. Thus, we diagnosed her with MAS so that Letrozole was given. After a month therapy (initial dose 1.5 mg/m2/day then increased to 2 mg/m2/day orally), the estradiol level decreased (<20 pg/ml) and no enlargement of uterine size.
Learning Points/Discussion : In our case Letrozole therapy is well tolerated without any adverse events, the vaginal bleeding reduced in frequency and duration. Neither significant change in the pubertal status nor bone age was seen during the therapy and the uterine size remained normal. Other endocrinopathies must be monitored for the long term outcome.