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https://repositorio.ufba.br/handle/ri/16665
metadata.dc.type: | Artigo de Periódico |
Title: | Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism |
Other Titles: | Journal of Pediatric Endocrinology and Metabolism |
Authors: | Alves, Crésio de Aragão Dantas Sampaio, Silvana Barbieri, Anna Maria Mantovani, Giovanna |
metadata.dc.creator: | Alves, Crésio de Aragão Dantas Sampaio, Silvana Barbieri, Anna Maria Mantovani, Giovanna |
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. |
Keywords: | Hypocalcemia Hypothyroidism Pseudo-hypoparathyroidism |
metadata.dc.rights: | Acesso Aberto |
URI: | http://repositorio.ufba.br/ri/handle/ri/16665 |
Issue Date: | 2013 |
Appears in Collections: | Artigo Publicado em Periódico (Faculdade de Medicina) |
Files in This Item:
File | Description | Size | Format | |
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Cresio Alves.pdf | 320,45 kB | Adobe PDF | View/Open |
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