Albright's hereditary osteodystrophy

Signs and symptoms

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.

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.

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).

Diagnosis

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

• Clinical features
• Serum calcium, phosphorus, PTH
• Urine test for cAMP and phosphorus

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.

History

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.

References

References

1. Rapini, Ronald P.. (2007). "Dermatology: 2-Volume Set". Mosby.
2. "Albright's hereditary osteodystrophy". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program.
3. Garavelli L. (April 2005). "Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1". Acta Biomed.
4. Kottler, Marie. (2004). "Alpha hereditary Osteodystrophy".
5. "OMIM Entry - # 103580 - PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A".
6. Cooper, Geoffrey M. (2000). "Pathways of Intracellular Signal Transduction". Sinauer Associates.
7. Reference, Genetics Home. "What is a gene?".
8. "Pseudohypoparathyroidism: MedlinePlus Medical Encyclopedia".
9. "Pseudohypoparathyroidism".
10. Tze, W. J.. (1975). "Urinary 3'5' cyclic AMP. Diagnostic test in pseudohypoparathyroidism". Arch Dis Child.
11. Kliegman, Robert. (2016). "Nelson Textbook of Pediatrics. 20th ed.". Elsevier.
12. 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.