Definition
First described in 1942 by endocrinologist Fuller Albright, Albright hereditary osteodystrophy is an autosomal dominant inherited disease characterized by a spectrum of disease manifestations including mainly dysmorphic bone manifestations (e.g., brachydactyly), dental abnormalities, stocky habitus/short stature, glucose intolerance/diabetes mellitus and associated weight gain, hypogonadism, hypertension, and ectopic subcutaneous ossification. Mild intellectual disability is often present. Endocrine-related manifestations are most commonly related to parathyroid hormone resistance, but may also be related to resistance to thyroid-stimulating hormone and other hormones which signal through G-protein coupled pathways (e.g., growth hormone, adrenocorticotropin, glucagon, gonadotropins, and antidiuretic hormone/vasopressin). Overall, the findings and the...
This is a preview of subscription content, log in via an institution to check access.
References and Further Reading
Albright, F., Burnett, C. H., Smith, P. H., & Parson, W. (1942). Pseudohypoparathyroidism – An example ‘Seabright-Bantam syndrome’. Endocrinology, 30, 922–932.
Davies, S. J., & Hughes, H. E. (1993). Imprinting in Albright’s hereditary osteodystrophy. Journal of Medical Genetics, 30, 101–103.
de Nanclares, G. P., Fernández-Rebollo, E., Santin, I., GarcÃa-Cuartero, B., et al. (2007). Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright’s hereditary osteodystrophy. The Journal of Clinical Endocrinology and Metabolism, 92(6), 2370–2373.
Kacerovska, D., Nemcova, J., Pomahacova, R., Michal, M., & Kazakov, D. V. (2008). Cutaneous and superficial soft tissue lesions associated with Albright hereditary osteodystrophy: Clinicopathological and molecular genetic study of 4 cases, including a novel mutation of the GNAS gene. The American Journal of Dermatopathology, 30(5), 417–424.
Long, D. N., McGuire, S., Levine, M. A., Weinstein, L. S., & Germain-Lee, E. L. (2007). Body mass index differences in Pseudohypoparathyroidism type 1a versus Pseudo-pseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. The Journal of Clinical Endocrinology and Metabolism, 92, 1073–1079.
Patten, J. L., et al. (1990). Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright’s hereditary osteodystrophy. The New England Journal of Medicine, 322, 1412–1419.
Salemi, P., Skalamera Olson, J. M., Dickson, L. E., & Germain-Lee, E. L. (2018). Ossifications in Albright hereditary osteodystrophy: Role of genotype, inheritance, sex, age, hormonal status, and BMI. The Journal of Clinical Endocrinology and Metabolism, 103(1), 158–168.
Wilson, L. C., & Hall, C. M. (2002). Albright’s hereditary osteodystrophy and pseudo-hypoparathyroidism. Seminars in Musculoskeletal Radiology, 6, 273–283.
Wilson, L. C., & Trembath, R. C. (1994). Albright’s hereditary osteodystrophy. Journal of Medical Genetics, 31, 779–784.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2020 Springer Nature Switzerland AG
About this entry
Cite this entry
Pakbaz, S., Hodgson, A., Mete, O. (2020). Albright Hereditary Osteodystrophy. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_5213-1
Download citation
DOI: https://doi.org/10.1007/978-3-319-28845-1_5213-1
Received:
Accepted:
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-28845-1
Online ISBN: 978-3-319-28845-1
eBook Packages: Springer Reference MedicineReference Module Medicine