This patient, a 17-month-old girl, was referred to our pediatric endocrinology clinic because of vaginal bleeding from three days ago. She had normal growth and development and had no history of disease.
In physical examination, the height was 78.5cm (25–50 percentiles) and the weight was 10 kg (25 percentile). The pubertal stage was B3, according to Tanner score. There were no café-au-lait spots, and examinations of other organs were normal as well. Pelvic ultrasonography revealed enlargement of uterus (45×12×20 mm) and ovaries (Lt. 16×23 mm and Rt. 32×14 mm) and a unilateral ovarian cyst of 15×33 mm of the left ovary. Pelvic Magnetic Resonance Imaging (MRI) did not reveal any abnormalities and confirmed the ultrasonographic results. Routine laboratory tests and serum level of LH, FSH, DHEAS, TSH, T4, and prolactin gave normal results. Serum estradiol (140pg/ml; NL range <10pg/ml) was elevated.
Considering the clinical and paraclinical findings, the patient diagnosed as a case of gonadotropin-independent precocious puberty received medroxy-progestrone acetate (MPA) for three months.
Follow-up investigations revealed regression of ovarian cyst and breast size (B2).
After 19 months, at age 3, the patient was referred again because of vaginal bleeding. Height 100 cm (95 percentile), weight 15.2 kg (75 percentile). Bone age was consistent with 5 years. Patient had a Tanner score of B3. Pelvic ultrasonography revealed enlargement of uterus (17×34×54 mm) and ovaries (Lt.11×12 mm and Rt.37×35 mm).
The results of GnRh test at 30, 60, and 120 min were as follow;
LH= 3 → 4.8 → 5.7 → 7.9 μu/ml FSH=2.9 → 16 → 16.5 → 18 μu/ml.
In order to evaluate the gonadotropin-dependent precocious puberty, brain MRI was performed, which did not reveal any abnormalities. The patient received LHRH-agonist therapy for two months. The treatment was discontinued after that period because of spotting, increased breast size, and inappro-priate response to LHRH-agonist.
During follow-up, the patient had recurrent periods of vaginal bleeding and bilateral ovarian cysts. In this period she was treated with medroxy-progestrone acetate, LHRH-agonist, and ciproteron acetate. In order to confirm presence of MAS, when she was 5.5 years old, serum levels of Ca, P, cortisol, TSH, and T4 were measured in outpatient clinic, which gave normal results.
In physical examination, height was 127 cm (>95 percentile), weight was 28 kg (>95 percentile), and the bone age was 8.5–9 years. The patient had a Tanner score of B3. In face, there was an asymmetry on right and left maxillary bones.
Radiography of femoral bone was normal but CT scan of maxillary bone revealed a fibrous dysplasia of the right maxillary bone ( and 2).
Brain CT scan of the patient with gonadotropin-independent precocious puberty and maxillary fibrous dysplasia
By coexistence of pseudoprecocious puberty and fibrous dysplasia the diagnosis McCune–Albright syndrome was confirmed.