Albright's hereditary osteodystrophy explained

Albright's hereditary osteodystrophy
Symptoms:	Choroid plexus calcification, Full cheeks
Causes:	Gs alpha subunit deficiency
Diagnosis:	calcium, phosphorus, PTH, Urine test for phosphorus and cyclic AMP
Treatment:	Phosphate binders, supplementary calcium
Named After:	Fuller Albright

Albright's hereditary osteodystrophy is a form of osteodystrophy,^[1] and is classified as the phenotype of pseudohypoparathyroidism type 1A; this is a condition in which the body does not respond to parathyroid hormone.^[2]

Signs and symptoms

The disorder is characterized by the following:^[2]

• Hypogonadism
• Brachydactyly syndrome
• Choroid plexus calcification
• Hypoplasia of dental enamel
• Full cheeks
• Hypocalcemic tetany

Individuals with Albright hereditary osteodystrophy exhibit short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild intellectual deficiency.^[3]

Genetics

This condition is associated with genetic imprinting. It is thought to be inherited in an autosomal dominant pattern, and seems to be associated with a Gs alpha subunit deficiency.^[4]

Mechanism

The mechanism of this condition is due to Gs signaling decrease in hormones having to do with signal transduction which is when a signal from outside cell causes change within the cell (in function). Renal tubule cells only express maternal alleles (variant form of a gene).^{[5] [6] [7]}

Diagnosis

The diagnosis of Albright's hereditary osteodystrophy is based on the following exams below:^[8]

• Clinical features
• Serum calcium, phosphorus, PTH^[9]
• Urine test for cAMP and phosphorus^[10]

Treatment

Treatment consists of maintaining normal levels of calcium, phosphorus, and vitamin D. Phosphate binders, supplementary calcium and vitamin D will be used as required.^[11]

History

The disorder bears the name of Fuller Albright, who characterized it in 1942.^[12] He was also responsible for naming it "Sebright bantam syndrome," after the Sebright bantam chicken, which demonstrates an analogous hormone insensitivity. Much less commonly, the term Martin-Albright syndrome is used, this refers to Eric Martin.^[13]

See also

• Pseudopseudohypoparathyroidism

Further reading

• Book: Thakker, Rajesh V. . Genetics of Bone Biology and Skeletal Disease . Whyte . Michael P. . Eisman . John . Igarashi . Takashi . 2013 . Academic Press . 9780123878304 . en . 12 February 2017.
• Book: Henderson, Katherine E. . The Washington Manual Endocrinology Subspecialty Consult . Baranski . Thomas J. . Bickel . Perry E. . Clutter . William E. . 2009 . Lippincott Williams & Wilkins . 9780781791540 . en . 12 February 2017.

Notes and References

1. Book: Rapini, Ronald P. . Dermatology: 2-Volume Set . Bolognia, Jean L. . Jorizzo, Joseph L. . Mosby . 2007 . 978-1-4160-2999-1 . St. Louis . 657.
2. Web site: Albright's hereditary osteodystrophy . dead . https://web.archive.org/web/20170211081324/https://rarediseases.info.nih.gov/diseases/5770/albrights-hereditary-osteodystrophy . 11 February 2017 . 9 February 2017 . Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . en.
3. Garavelli L . Pedori S . Zanacca C . etal . April 2005 . Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1 . Acta Biomed . 76 . 1 . 45–8 . 16116826.
4. Web site: Kottler . Marie . 2004 . Alpha hereditary Osteodystrophy . live . https://web.archive.org/web/20210426183551/https://www.orpha.net/data/patho/GB/uk-AHO.pdf . 2021-04-26 . 2017-02-12 . Orphanet.
5. Web site: OMIM Entry - # 103580 - PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A . live . https://web.archive.org/web/20170118155125/http://omim.org/entry/103580#phenotypeMap . 18 January 2017 . 12 February 2017 . omim.org . en-us.
6. Web site: Cooper . Geoffrey M . 2000 . Pathways of Intracellular Signal Transduction . live . https://web.archive.org/web/20180405085752/https://www.ncbi.nlm.nih.gov/books/NBK9870/ . 2018-04-05 . 2024-06-26 . Sinauer Associates.
7. Web site: Reference . Genetics Home . What is a gene? . live . https://web.archive.org/web/20200516195548/http://ghr.nlm.nih.gov/handbook/basics/gene . 2020-05-16 . 2017-02-12 . Genetics Home Reference . en.
8. Web site: Pseudohypoparathyroidism: MedlinePlus Medical Encyclopedia . live . https://web.archive.org/web/20170213090337/https://medlineplus.gov/ency/article/000364.htm . 13 February 2017 . 12 February 2017 . medlineplus.gov . en.
9. Web site: Pseudohypoparathyroidism . live . https://web.archive.org/web/20170213090337/https://medlineplus.gov/ency/article/000364.htm . 2017-02-13 . 2017-02-12.
10. Tze . W. J. . Saunders . J. . Drummond . G. I. . 1975 . Urinary 3'5' cyclic AMP. Diagnostic test in pseudohypoparathyroidism . Arch Dis Child . 50 . 8 . 656–658 . 10.1136/adc.50.8.656 . 1545541 . 173244.
11. Book: Kliegman, Robert . Nelson Textbook of Pediatrics. 20th ed. . Elsevier . 2016 . 978-1-4557-7566-8 . Philadelphia, PA . chap 572.
12. F. Albright, C. H. Burnett, P. H. Smith, et al. Pseudo-hypoparathyroidism-example of 'Seabright-Bantam syndrome'; report of three cases.Endocrinology, Baltimore, 1942, 30: 922-932.
13. D. Martin, J. Bourdillon. Un cas de tétanie idiopathique chronique. Échec thérapeutique de la graffe d'un adénome parathyroïdien. Revue médicale de la Suisse romande, Lausanne, 1940, 60: 1166-1177.