Pseudohypoparathyroidism in a mother and son: phenotypic variability and associated disorder.
Indian J Pediatr
;
2001 Mar; 68(3): 279-81
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Phenotype
/
Pseudohypoparathyroidism
/
Female
/
Humans
/
Male
/
Adult
/
Infant
Language:
English
Journal:
Indian J Pediatr
Year:
2001
Type:
Article
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