ESPE Abstracts

McCune-Albright syndrome is a rare, sporadic disorder defined by the triad of café-au-lait spots, fibrous bone dysplasia, and endocrinopathy. The diagnosis is often made on bone or endocrine involvement, but must be suspected on the particular morphology of café-au-lait spots. We report a case of McCune-Albright syndrome diagnosed on these cutaneous signs and precocious puberty. This is a 4.5-year-old girl referred by a gynecologist for a pediatric endocrinology opinion. The patient had consulted for abdominal pain with an ultrasound image of a right latero-uterine cyst measuring 48/50mm in diameter, for which the patient was scheduled for surgical removal. On clinical examination, his weight was 22 kg, height 105 cm (-0.2 SD). she had two giant café-au-lait spots on her face and back associated with a picture of precocious puberty with M3 P1 A1, abundant leucorrhea and marked estrogenization of the external genitalia, suggesting McCune Albright syndrome, age bone was at 7 years and a half, the examination of the skeleton objectified a slight fibrous dysplasia, the LH / RH test was negative, the estradiol very high and FSH, LH collapsed. The thyroid ultrasound found 3 small nodules of sub-centimeter size, with a thyroid assessment and normal renal function. The patient was placed on peripheral anti-estrogen Letrozole at 2.5 mg/day continuously, the response was spectacular after 4 months with a reduction in the volume of the cyst to 22/20 mm, and an almost total disappearance of the latter. At 6 months of treatment, on the other hand, the number of thyroid nodules increased from 5 to 3 months to 8 to 6 months of treatment, the thyroid balance remained normal. McCune-Albright is a rare cause of peripheral puberty, easy to diagnose due to the association of the triad of precocious puberty, bone fibrous dysplasia and café au lait spot, the treatment is generally disappointing, unlike our patient who presented an excellent response but the stature prognosis is always at stake and does not constitute an indication for treatment with growth hormone.