Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism
-
Cresio Alves
,
Silvana Sampaio
Abstract
Pseudohypoparathyroidism type Ia (PHP Ia) is a rare disease characterized by an elevated parathyroid hormone due to the resistance to its action in target tissues. We report a new GNAS mutation causing PHP Ia and an atypical early-onset primary hypothyroidism. A 3-year-old boy was diagnosed with obesity, delayed pyschomotor development, and round face. The laboratory evaluation at the age of 1 year showed primary hypothyroidism, hypocalcemia, hyperphosphatemia, elevated alkaline phosphatase, and parathyroid hormone. These data led to the diagnosis of PHP Ia. Molecular analysis revealed a novel missense mutation in GNAS exon 1 (TCG→CGC, Cys3→Arg) in both the child and his mother. Although previously reported cases described delayed subclinical hypothyroidism as the more common thyroid abnormality, we report a not previously described GNAS mutation associated with an atypical early-onset primary hypothyroidism. These observations broaden the clinical spectrum of PHP Ia and its associated mutations.
This work was supported by the Italian Ministry of Health grant GR-2009-1608394 (G.M.).
Conflict of interest statement
Contribution of each author for the writing of the article: All authors acknowledge that they participated sufficiently in the work to take public responsibility for its content.
Potential conflict of interest: The authors state that there is no financial or other relationship that might lead to conflict of interest.
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©2013 by Walter de Gruyter Berlin Boston
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