Rare association of schizophrenia and unilateral Graves’ disease with contralateral thyroid hemiagenesis in two cases of McCune-Albright syndrome

Abstract

The classical triad of McCune-Albright syndrome (MAS) consists of polyostotic fibrous dysplasia (FD), skin hyperpigmentation (café-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty. Etiology is genetically based and is explained by mosaicism of activating somatic mutations of the alpha-subunit of Gs protein. Clinical presentation is varied and is dependent on the particular distribution of affected cells, causing a broad spectrum of endocrine and non-endocrine manifestations. Typical endocrinopathies are precocious puberty, hyperthyroidism, growth hormone excess, hyperprolactemia, and hypercortisolism. Manifestations usually occur during infancy and childhood. We present 2 classical cases of MAS with rare association of cerebral and endocrine dysfunction (unilateral Graves' disease with contralateral thyroid hemi agenesis). The first case is an adult onset MAS with hyperparathyroidism and schizophrenia; this association is hitherto unreported in literature. Literature search showed that mutations in the Gsα gene may be associated with the pathogenesis of schizophrenia which is similar to the underlying factor in MAS. The second is a child exhibiting classical MAS with hyperthyroidism (unilateral Graves' disease) which is common but is associated contralateral thyroid hemiagenesis.