Albright's hereditary osteodystrophy.
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.
Kapoor
Seema
S
Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi, India. seemam@vsnl.com
Gogia
Siddhartha
S
Paul
Ritu
R
Banerjee
Sharmila
S
D002648:Child; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000097:blood / Q000150:complications / Q000175:diagnosis*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000097:blood; D030342:Genetic Diseases, Inborn; D006801:Humans; D011547:Pseudohypoparathyroidism / Q000209:etiology; D011556:Pseudopseudohypoparathyroidism / Q000209:etiology
D019205:GTP-Binding Protein alpha Subunits, Gs