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 earlyonset primary hypothyroidism. These observations broaden the clinical spectrum of PHP Ia and its associated mutations.
Pseudohypoparathyroidism type Ia : a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism / C. Alves, S. Sampaio, A.M. Barbieri, G. Mantovani. - In: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. - ISSN 0334-018X. - 26:5-6(2013 May), pp. 557-560.
|Titolo:||Pseudohypoparathyroidism type Ia : a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism|
BARBIERI, ANNA MARIA (Penultimo)
MANTOVANI, GIOVANNA (Ultimo)
|Parole Chiave:||hypocalcemia; hypothyroidism; pseudohypoparathyroidism; Brazil; child, preschool; family health; female; GTP-binding protein alpha subunits, Gs; humans; hypocalcemia; hypothyroidism; male; mutation, missense; pseudohypoparathyroidism; endocrinology; endocrinology, diabetes and metabolism; pediatrics, perinatology and child health|
|Settore Scientifico Disciplinare:||Settore MED/13 - Endocrinologia|
|Data di pubblicazione:||mag-2013|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1515/jpem-2012-0301|
|Appare nelle tipologie:||01 - Articolo su periodico|