Albright’s hereditary osteodystrophy consists of a constellation of features including a form of osteodystrophy, that occur in pseudohypoparathyroidism type 1a.
The disorder is characterized by a lack of responsiveness to parathyroid hormone, resulting in low serum calcium, high serum phosphate, and appropriately high serum parathyroid hormone.
Individuals with Albright’s hereditary osteodystrophy have short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild mental retardation.
Albright’s hereditary osteodystrophy is commonly known as Pseudohypoparathyroidism because the kidney responds as if parathyroid hormone were absent. In fact, blood levels of parathyroid hormone are elevated in Pseudohypoparathyroidism due to the continued Hyperphosphatemia & Hypocalcemia.
It is associated with epigenetic genetic imprinting. Because of this the disease can occur when a mother with mild clinical symptoms or a de novo mutation of the maternal allele passes it to her offspring.
It is believed to be inherited in an autosomal dominant pattern.
It is associated with a Gs alpha subunit deficiency.
The disorder bears the name of Fuller Albright, who characterized it in 1942. He was also responsible for characterizing McCune-Albright syndrome as well as a number of other bone disorders.
He originally named it "Sebright Bantam syndrome", after the Sebright Bantam, which demonstrated an analogous hormone insensitivity.
Much less commonly, the term "Martin-Albright syndrome" is used, after the first author of a 1940 paper in a Swiss medical journal that may have described a case.
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- ^ Online 'Mendelian Inheritance in Man' (OMIM) 103580
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- ^ Patten JL, Johns DR, Valle D et al. (May 1990). "Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy". N. Engl. J. Med. 322 (20): 1412–9. PMID 2109828. doi:10.1056/NEJM199005173222002.
- ^ Wilson LC, Trembath RC (October 1994). "Albright's hereditary osteodystrophy" (PDF). J. Med. Genet. 31 (10): 779–84. PMC 1050125. PMID 7837255. doi:10.1136/jmg.31.10.779.
- ^ Albright F, Burnett CH, Smith PH et al. (1942). "Pseudo-hypoparathyroidism-example of 'Seabright-Bantam syndrome'; report of three cases". Endocrinology 30: 922–932.
- ^ synd/164 at Who Named It?
- ^ Quist SR, Franke I, Hiort O, Gollnick HP, Leverkus M (January 2009). "First diagnosis of Martin-Albright syndrome in a 58-year-old patient". J Dtsch Dermatol Ges 7 (1): 43–5. PMID 19138295. doi:10.1111/j.1610-0387.2008.06862.x.
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- ^ Martin D, Bourdillon J (1940). "Un cas de tétanie idiopathique chronique. Échec thérapeutique de la graffe d’un adénome parathyroïdien". Revue médicale de la Suisse romande (Lausanne) 60: 1166–77.