Endocrine Abstracts

Introduction: Maccune albright syndrome; is a rare disorder resulting from the involvement of several organs; the phenotype is variable depending on the clinical manifestations linked to the importance of the tissues affected by the mutation.

Case report: In our patient, the diagnosis was not made until she was 8 years old, despite some suggestive signs: as café au lait skin macules at birth and early forearm bone fractures at the age of 3 years. At 8 years; she presents all the manifestations of the syndrome: - peripheral precocious puberty: the patient is classified as S3 P3 and the mother reports 2 episodes of vaginal bleeding Hormonal assessment shows an elevated oestradiol level of 326 pg/ml with suppressed FSH and LH. Ultrasound of the internal genitalia shows a pubere uterus with cysts. - multiple polyostotic fibrous dysplasia disease: Technetium-99 scintigraphy scan showing increased tracer uptake in areas of fibrous dysplasia, including the skull, spine, humerus, costal grill distal third of the right ulna spine and sacroiliac bones. - Peripheral FT3 hyperthyroidism: thyroid ultrasound revealed an enlarged thyroid with multiple cystic anechoic formations in both lobes

Discussion: Management of Mccune Albright syndrome is cumbersome; diagnosis is often unrecognised; late in our patient, but there is no doubt about the diagnosis. Our patient has a combination of bone, skin, gonadal and thyroid involvement. In order to detect and identify occult bone damage, we performed a bone scan, which revealed multiple damage justifying a complete clinical and radiological assessment and rigorous monitoring. The patient does not have disabling bone pain that warrants biphosphonate treatment. The height obtained after treatment with androcur and synthetic antithyroid drugs is acceptable: the patient has a height of 165 mm; Radical treatment of hyperthyroidism will be discussed with a preference for total thyroidectomy.

Conclusion: Maccune Albright Syndrome is rare but the management of these children is quite heavy and continues into adulthood. In our patient, despite a multi-systemic form, the target size is correct; there are no deformities or major fractures and no functional impotence, despite the delay in diagnosis Monitoring of these patients continues throughout their lives as the disease remains active and requires multidisciplinary management in order to watch out for any complications or sarcomatous or mammary transformation