title: Albright's hereditary osteodystrophy.
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.
authors.affiliation: Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi, India. seemam@vsnl.com
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
authors.forename: Siddhartha
authors.initials: S
authors.lastname: Gogia
authors.forename: Ritu
authors.initials: R
authors.lastname: Paul
authors.forename: Sharmila
authors.initials: S
authors.lastname: Banerjee
mesh_terms: 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
chemical_list: D019205:GTP-Binding Protein alpha Subunits, Gs