Rare association of schizophrenia and unilateral Graves’ disease with contralateral thyroid hemiagenesis in two cases of McCune-Albright syndrome
نویسندگان
چکیده
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.
منابع مشابه
Rare association of schizophrenia and unilateral Graves’ disease with contralateral thyroid hemiagenesis in two cases of McCune-Albright syndrome
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 depend...
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McCune-Albright Syndrome (MAS) is a rare sporadic disease characterized by bone fibrous dysplasia, Café au lait spots and a variable association of hyperfunction endocrine disorders. There is not any certain treatment available for this syndrome, and both physical and emotional disability in these patients is still a major concern for physicians. In present report we have described a 10- year-o...
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McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...
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