Pseudohypoparathyroidism in a mother and son: phenotypic variability and associated disorder.
Indian J Pediatr
;
2001 Mar; 68(3): 279-81
Artigo
em Inglês
| IMSEAR
| ID: sea-82638
ABSTRACT
A 2-month-old infant with clinical features of hypothyroidism presented with hypocalcemic seizures. The maternal phenotypic features aroused the suspicion of pseudohypoparathyroidism which was confirmed in both by biochemical and endocrinological investigations. Though the child had clinical and radiological features to suggest hypothyroidism he had normal free thyroxine and only slightly elevated thyroid stimulating hormone levels. Special note is made of the intra and interpatient variability of this rare inherited disorder.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Fenótipo
/
Pseudo-Hipoparatireoidismo
/
Feminino
/
Humanos
/
Masculino
/
Adulto
/
Lactente
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2001
Tipo de documento:
Artigo
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