Document Detail


Pseudohypoparathyroidism in a mother and son: phenotypic variability and associated disorder.
MedLine Citation:
PMID:  11338227     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M Ray; J Goraya; S Basu; S Mitra; B Poddar; V Parmar
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Indian journal of pediatrics     Volume:  68     ISSN:  0019-5456     ISO Abbreviation:  Indian J Pediatr     Publication Date:  2001 Mar 
Date Detail:
Created Date:  2001-05-07     Completed Date:  2001-05-17     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0417442     Medline TA:  Indian J Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  279-81     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Government Medical College and Hospital, Chandigarh. medinst@pgi.chd.nic.in
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MeSH Terms
Descriptor/Qualifier:
Adult
Female
Humans
Infant
Male
Phenotype
Pseudohypoparathyroidism / genetics*

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