ESPE Abstracts

Introduction: McCune Albright syndrome (MAS) is classically defined by the clinical triad: fibrous dysplasia of bone, café-au-lait skin pigmentation and endocrinopathies :The most frequent is precocious puberty. Linked to a somatic mutation of the α subunit of the Gs protein, this syndrome leads to a constitutive activation of adenylate cyclase, to the excessive production of AMPc

Case presentation: Here we report a case of a 3-year-old girl, consulting for vaginal bleeding since the age of 03 months with breast budding at 18 months. On physical examination the patient weighed 18.2 kg (+3.05 SD) for a height of 108 cm (+4.24 SD)., abnormal genital bleeding with Tanner stage III for breast development, Tanner stage I for pubic hair, and also for axillary hair, her external genitalia and clitoris were not appropriate for her age. There was café‐au‐lait skin pigmentation with irregular contours on the left leg and the external genitalia. The examination did not find any signs of hyperandrogenism, nor any deformities or bone pain.Hormonal analysis revealed an increased serum estradiol (E2) levels 275.9 pmol/l (< 70) and normally low luteinizing hormone (LH) and follicle‐stimulating hormone (FSH) levels as a prepubertal girl. FSH: 0.10 ui/l (4) LH: 0.10 ui/l (1.4). Pelvic ultrasound showed a 39 mm right ovarian cyst with a prepubescent uterus. At that time, her bone age was 10 years old. • Brain magnetic resonance imaging thickening of the entire frontal and occipital cranial vault as well as the sphenoidal body and the clivus and the parasellar Evoking lesions of fibrous dysplasia + thickening of the roof of the cavum Treatment with anti-aromatase at a dose of 2.5 mg/day allowing the disappearance of metrorrhagia, improvement of hyperestrogenia with good hepatic tolerance with a follow-up of 04 years.

Conclusion: The diagnosis of MAS is not always straightforward, particularly in the absence of the classic triad. We should think about it especially before any precocious puberty in order to start an effective therapy allowing a good clinical improvement.