Albright's hereditary osteodystrophy is a form of

osteodystrophy Osteodystrophy is any dystrophic growth of the bone. It is defective bone development that is usually attributable to renal disease or to disturbances in calcium and phosphorus metabolism. One form is renal osteodystrophy. See also * List of ...

, and is classified as the

phenotype In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological prop ...

pseudohypoparathyroidism Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is appropriately high (due to th ...

type 1A; this is a condition in which the body does not respond to

parathyroid hormone Parathyroid hormone (PTH), also called parathormone or parathyrin, is a peptide hormone secreted by the parathyroid glands that regulates the serum calcium concentration through its effects on bone, kidney, and intestine. PTH influences bone r ...

Signs and symptoms

The disorder is characterized by the following: *

Hypogonadism Hypogonadism means diminished functional activity of the gonads—the testes or the ovaries—that may result in diminished production of sex hormones. Low androgen (e.g., testosterone) levels are referred to as hypoandrogenism and low est ...

Brachydactyly Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means "short finger". The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an in ...

syndrome *

Choroid plexus The choroid plexus, or plica choroidea, is a plexus of cells that arises from the tela choroidea in each of the ventricles of the brain. Regions of the choroid plexus produce and secrete most of the cerebrospinal fluid (CSF) of the central ne ...

calcification * Hypoplasia of dental enamel * Full

cheeks The cheeks ( la, buccae) constitute the area of the face below the eyes and between the nose and the left or right ear. "Buccal" means relating to the cheek. In humans, the region is innervated by the buccal nerve. The area between the insid ...

* Hypocalcemic tetany Individuals with Albright hereditary osteodystrophy exhibit

short stature Short stature refers to a height of a human which is below typical. Whether a person is considered short depends on the context. Because of the lack of preciseness, there is often disagreement about the degree of shortness that should be called ' ...

, characteristically shortened fourth and fifth

metacarpal In human anatomy, the metacarpal bones or metacarpus form the intermediate part of the skeletal hand located between the phalanges of the fingers and the carpal bones of the wrist, which forms the connection to the forearm. The metacarpal bones ...

s, rounded

facies In geology, a facies ( , ; same pronunciation and spelling in the plural) is a body of rock with specified characteristics, which can be any observable attribute of rocks (such as their overall appearance, composition, or condition of formatio ...

, and often mild intellectual deficiency. Albright hereditary osteodystrophy is commonly known as pseudohypoparathyroidism because the kidney responds as if parathyroid hormone were absent. Blood levels of parathyroid hormone are elevated in pseudohypoparathyroidism due to the hypocalcemia

Genetics

This condition is associated with genetic imprinting. It is thought to be inherited in an

autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes ...

dominant Domination or dominant may refer to: Society * World domination, which is mainly a conspiracy theory * Colonialism in which one group (usually a nation) invades another region for material gain or to eliminate competition * Chauvinism in which a ...

pattern, and seems to be associated with a

Gs alpha subunit The Gs alpha subunit (Gαs, Gsα) is a subunit of the heterotrimeric G protein Gs that stimulates the cAMP-dependent pathway by activating adenylyl cyclase. Gsα is a GTPase that functions as a cellular signaling protein. Gsα is the foundin ...

deficiency.

Mechanism

The mechanism of this condition is due to Gs signaling decrease in hormones having to do with

signal transduction Signal transduction is the process by which a chemical or physical signal is transmitted through a cell as a series of molecular events, most commonly protein phosphorylation catalyzed by protein kinases, which ultimately results in a cellular ...

which is when a signal from outside cell causes change within the cell (in function).

Renal tubule The nephron is the minute or microscopic structural and functional unit of the kidney. It is composed of a renal corpuscle and a renal tubule. The renal corpuscle consists of a tuft of capillaries called a glomerulus and a cup-shaped structure ...

cells only express maternal

alleles An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chro ...

(variant form of a gene).

Diagnosis

The diagnosis of Albright's hereditary osteodystrophy is based on the following exams below: * clicical features * serum calicum, phosphorus, PTH *

Urine Urine is a liquid by-product of metabolism in humans and in many other animals. Urine flows from the kidneys through the ureters to the urinary bladder. Urination results in urine being excreted from the body through the urethra. Cellular ...

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 Fuller Albright (January 12, 1900 – December 8, 1969) was an American endocrinologist who made numerous contributions to his field, especially to the area of calcium metabolism. Albright made great strides and contributions to the understandin ...

, who characterized it in 1942. He was also responsible for naming it "Sebright bantam syndrome," after the

Sebright bantam The Sebright (IPA: ) is a British breed of bantam chicken. It is a true bantam – a miniature bird with no corresponding large version – and is one of the oldest recorded British bantam breeds. It is named after Sir John Saunders Sebrig ...

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.

References

External links

{{Osteochondropathy Autosomal dominant disorders Genodermatoses Rare diseases