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.

Pseudohypoparathyroidism type Ia : a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism

A.M. Barbieri
Penultimo
;
G. Mantovani
Ultimo
2013

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 earlyonset primary hypothyroidism. These observations broaden the clinical spectrum of PHP Ia and its associated mutations.
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 MED/13 - Endocrinologia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/252559
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