Albright's hereditary osteodystrophy

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The disorder is characterized by the following:

• 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.{{Cite journal |last=Garavelli L |last2=Pedori S |last3=Zanacca C |display-authors=etal |date=April 2005 |title=Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1 |journal=Acta Biomed |volume=76 |issue=1 |pages=45–8 |pmid=16116826}}

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.{{Cite web |last=Kottler |first=Marie |date=2004 |title=Alpha hereditary Osteodystrophy |url=https://www.orpha.net/data/patho/GB/uk-AHO.pdf |url-status=live |archive-url=https://web.archive.org/web/20210426183551/https://www.orpha.net/data/patho/GB/uk-AHO.pdf |archive-date=2021-04-26 |access-date=2017-02-12 |website=Orphanet}}

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).{{Cite web |title=OMIM Entry - # 103580 - PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A |url=https://omim.org/entry/103580#phenotypeMap |url-status=live |archive-url=https://web.archive.org/web/20170118155125/http://omim.org/entry/103580#phenotypeMap |archive-date=18 January 2017 |access-date=12 February 2017 |website=omim.org |language=en-us}}{{Cite web |last=Cooper |first=Geoffrey M |date=2000 |title=Pathways of Intracellular Signal Transduction |url=https://www.ncbi.nlm.nih.gov/books/NBK9870/ |url-status=live |archive-url=https://web.archive.org/web/20180405085752/https://www.ncbi.nlm.nih.gov/books/NBK9870/ |archive-date=2018-04-05 |access-date=2024-06-26 |publisher=Sinauer Associates}}{{Cite web |last=Reference |first=Genetics Home |title=What is a gene? |url=https://ghr.nlm.nih.gov/primer/basics/gene |url-status=live |archive-url=https://web.archive.org/web/20200516195548/http://ghr.nlm.nih.gov/handbook/basics/gene |archive-date=2020-05-16 |access-date=2017-02-12 |website=Genetics Home Reference |language=en}}

The diagnosis of Albright's hereditary osteodystrophy is based on the following exams below:{{Cite web |title=Pseudohypoparathyroidism: MedlinePlus Medical Encyclopedia |url=https://medlineplus.gov/ency/article/000364.htm |url-status=live |archive-url=https://web.archive.org/web/20170213090337/https://medlineplus.gov/ency/article/000364.htm |archive-date=13 February 2017 |access-date=12 February 2017 |website=medlineplus.gov |language=en}}

• Clinical features
• Serum calcium, phosphorus, PTH{{Cite web |title=Pseudohypoparathyroidism |url=https://medlineplus.gov/ency/article/000364.htm |url-status=live |archive-url=https://web.archive.org/web/20170213090337/https://medlineplus.gov/ency/article/000364.htm |archive-date=2017-02-13 |access-date=2017-02-12}}
• Urine test for cAMP and phosphorus{{Cite journal |last=Tze |first=W. J. |last2=Saunders |first2=J. |last3=Drummond |first3=G. I. |year=1975 |title=Urinary 3'5' cyclic AMP. Diagnostic test in pseudohypoparathyroidism |journal=Arch Dis Child |volume=50 |issue=8 |pages=656–658 |doi=10.1136/adc.50.8.656 |pmc=1545541 |pmid=173244}}

Treatment consists of maintaining normal levels of calcium, phosphorus, and vitamin D. Phosphate binders, supplementary calcium and vitamin D will be used as required.{{Cite book |last=Kliegman |first=Robert |title=Nelson Textbook of Pediatrics. 20th ed. |publisher=Elsevier |year=2016 |isbn=978-1-4557-7566-8 |location=Philadelphia, PA |pages=chap 572}}

The disorder bears the name of Fuller Albright, who characterized it in 1942.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. 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.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.

• Pseudopseudohypoparathyroidism

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{{Reflist}}

• {{Cite book |last=Thakker |first=Rajesh V. |url=https://kiwidental.ca/?id=yz0VLW3Ci5EC&pg=PA437&dq=Albright's+hereditary+osteodystrophy+treatment#v=onepage&q=Albright's%20hereditary%20osteodystrophy%20treatment&f=false |title=Genetics of Bone Biology and Skeletal Disease |last2=Whyte |first2=Michael P. |last3=Eisman |first3=John |last4=Igarashi |first4=Takashi |date=2013 |publisher=Academic Press |isbn=9780123878304 |language=en |access-date=12 February 2017}}
• {{Cite book |last=Henderson |first=Katherine E. |url=https://books.google.com/books?id=5ir5Zp0pl7oC&q=Albright's+hereditary+osteodystrophy+treatment&pg=PA332 |title=The Washington Manual Endocrinology Subspecialty Consult |last2=Baranski |first2=Thomas J. |last3=Bickel |first3=Perry E. |last4=Clutter |first4=William E. |date=2009 |publisher=Lippincott Williams & Wilkins |isbn=9780781791540 |language=en |access-date=12 February 2017}}

{{Medical resources

| DiseasesDB = 10835

| ICD10 = {{ICD10|E|20|1|e|20}}

| ICD9 = {{ICD9|275.49}}

| ICDO =

| OMIM = 103580

| MedlinePlus =

| eMedicineSubj =

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{{Osteochondropathy}}

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Category:Autosomal dominant disorders

Category:Genodermatoses

Category:Rare diseases

Category:Diseases named after discoverers