Hernández L, Espinosa MAL, Méndez V, Nishimura E, Mercado M

Language: Spanish
References: 23
Page: 11-18
PDF size: 91.96 Kb.

ABSTRACT

Background: McCune-Albright syndrome (MAS) is a rare entity that associates polyostotic fibrous dysplasia, café au lait spots and endocrine hyperfunction. The most common hormonal abnormality is precocious puberty. This syndrome is due to activating mutations of the GNAS1 gene. Objective: To describe the clinical characteristics of a series of patients with MAS receiving medical care at the Hospital de Pediatría and Hospital de Especialidades of Centro Médico Nacional Siglo XXI. Methods: Retrospective chart review of patients with MAS receiving care at these two hospitals between 1998 and 2010. Results: We present information on 12 patients, 9 from Hospital de Especialidades and 3 from the Hospital de Pediatría. Age at presentation varied between 19 months and 13 years; age at diagnosis ranged from 19 months to 29 years. All subjects had evidence of fibrous dysplasia which was polyostotic in 10 and monostotic in two. Compromise of cranial nerves was apparent in 5 patients, and 10 subjects had café au lait spots. Seven patients (58.3%) developed precocious puberty, 4 hypersomatotropinemia with hyperprolactinemia (33.3%) and one a toxic multinodular goiter (8.3%). Conclusions: The clinical characteristics of the patients in our series are consistent with those reported in the literature. The late diagnosis in some of our patients is noteworthy.

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