ESPE Abstracts

Introduction: McCune-Albright Syndrome (OMIM #174800) is a mosaic disorder, characterized by “café-au-lait” spots, fibrous dysplasia, and autonomous hyper function of one or more endocrine organs, within the peripheral precocious puberty remains the most common manifestation. This disease is caused by GNAS gene activating mutations.

Objective: To describe clinical and endocrine characteristics in ten patients with McCune-Albright Syndrome (M AS).

Population and methods: Retrospective clinical study of patients with MAS followed up at the Department of pediatric endocrinology of Algiers Hospital (CHU DEBAGHINE LAMINE), between 2009 and 2021. The diagnosis is based on the presence of at least two symptoms.

Results: Nine females and one male are described in this study; their age at onset of first signs was early (3, 27 ±1, 13) whereas their age at presentation was (5, 17 ±2,16years). All patients had café-au-lait skin spots. Seven girls developed peripheral precocious puberty (PP) among them five presented ovarian cysts however there was one female patient with precocious puberty associated to pituitary microadenoma. One female patient, MAS was associated with Turner Syndrome. On the other hand, the male patient had developed unilateral machroorchidism. Bone age was advanced in all patients. Fibrous dysplasia was detected in four patients. Cushing's syndrome occurred early in one female patient.

Discussion: McCune Albright Syndrome is characterized by a broad clinical spectrum. This study described multiple clinical and endocrine manifestations, in 10 Algerian patients with MAS. Peripheral PP helped to make an early diagnosis of MAS in most female patients, while the male patient presented unilateral machroorchidism.

Conclusion: Systemic approach is mandatory, in the diagnosis and management of MAS, to allow an early intervention, and thereby improving outcome in patients with the MAS.