The McCune-Albright syndrome

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Abstract
The presence of polyostotic fibrous dysplasia of bone, hyperpigmented skin macules, and precocious sexual development in children is known as the McCune-Albright syndrome. To date, a complex combination of multiple endocrinopathies including goiter, hyperthroidism, acromegaly, Cushing''s syndrome, hyperprolactinemia, sexual precocity, hyperparathyroidism, and hypophosphatemic hyperphosphaturic rickets have been described in association with this syndrome. Even though the pathogenetic mechanisms involved in the development of the endocrinopathies is unknown, it was assumed for many years that hypothalamic dysfunction was the cause in most cases. The overwhelming amount of data now permits the development of an alternate hypothesis; one of hyperfunctioning endocrine organs working with relative autonomy from hypothalamic control. We report a 4 10/12 years old black boy with polyostotic fibrous dysplasia, skin hyperpigmentation, acromegaly, hypercortisolism, hyperthyroidism and premature pubarche. This case represents an excellent example of a common multicellular abnormality in McCune-Albright''s. His data and that of others found in an extensive review of the literature prompts us to propose that a derangement in the regulation of the cAMP mediated system is responsible for the endocrinopathies which occur. We postulate the defect may be in all the cells of a specific organ in some instances and in only certain clones in others. Advances in molecular biology research will soon provide us the tools to look at the specific components of the cAMP system in multiple malfunctioning organs and test our hypothesis.