Albright's hereditary osteodystrophy.
Indian J Pediatr
;
2006 Feb; 73(2): 153-6
Article
in English
| IMSEAR
| ID: sea-78317
ABSTRACT
Albright's hereditary osteodystrophy is a rare inherited metabolic disorder characterized by a typical phenotype. It may be associated with or without resistance to parathyroid hormone (pseudohypoparathyroidism). Both forms may co-exist in the same family. Pseudohypoparathyroidism Type 1 and Pseudo-pseudohypoparathyroidism occur as a consequence of reduced erythrocyte membrane coupled with Gs alpha activity. We report here the variable inheritance of hormone resistance in the presence of characteristic phenotype and reduced Gs alpha activity in the same family.
Full text:
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Index:
IMSEAR (South-East Asia)
Main subject:
Pseudohypoparathyroidism
/
Pseudopseudohypoparathyroidism
/
Female
/
Humans
/
Child
/
GTP-Binding Protein alpha Subunits, Gs
/
Fibrous Dysplasia, Polyostotic
/
Genetic Diseases, Inborn
Language:
English
Journal:
Indian J Pediatr
Year:
2006
Type:
Article
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