| 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 |
Related Documents
:
|
6231357 - Abnormalities of thyroid function in infants with down syndrome. 8054857 - The disorders induced by iodine deficiency. 576137 - Evaluation of sodium l-thyroxine (t4) requirement in replacement therapy of hypothyroid... 8655917 - Regional and temporal fluctuations in the incidence of congenital hypothyroidism in isr... 6726567 - Gastric transposition via the mediastinal route for infants with long-gap esophageal at... 19668647 - A schematic approach to hypotonia in infancy. |
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 |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Female Humans Infant Male Phenotype Pseudohypoparathyroidism / genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Child with absent vital signs.
Next Document: Hypocalcemic heart failure masquerading as dilated cardiomyopathy.