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Albright's hereditary osteodystrophy

Albright's hereditary osteodystrophy: Introduction

Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate. More detailed information about the symptoms, causes, and treatments of Albright's hereditary osteodystrophy is available below.

Symptoms of Albright's hereditary osteodystrophy

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Albright's hereditary osteodystrophy: Undiagnosed Conditions

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Definitions of Albright's hereditary osteodystrophy:

Originally reported as a hypocalcemic syndrome similar to hypoparathyroidism, but with renal and skeletal resistance to parathyroid hormone (PTH) and designated as "pseudohypoparathyroidism." Albright later defined a normocalcemic variant which he termed "pseudopseudohypoparathyroidism." Two separate forms of pseudohypoparathyroidism are recognized. Type I in which there is no increase in the urinary excretion of cyclic adenosine monophosphate (cAMP) and phosphate in response to parathyroid hormone (PTH). Type II in which there is a response to PTH, but without phosphate diuresis. The erythrocytes of some patients with type I contain a defective receptor-cyclase coupling protein (stimulatory guanine nucleoside-binding protein, or GS) which is responsible for coupling the cellular receptor that binds parathyroid hormone (PTH) and is involved with the formation and release of cyclic adenosine monophosphate (cAMP). This variant has been designated as "pseudohypoparathyroidism type Ia." The syndrome is associated with mental deficiency, dystrophic bone lesions, short stature, and other defects. - (Source - Diseases Database)

Albright's hereditary osteodystrophy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Albright's hereditary osteodystrophy, or a subtype of Albright's hereditary osteodystrophy, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

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More information about Albright's hereditary osteodystrophy

  1. Albright's hereditary osteodystrophy: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Home Testing
  7. Complications
 

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