Pseudohypoparathyroidism type 1a

Introduction: Pseudohypoparathyroidism type 1a

Description of Pseudohypoparathyroidism type 1a

Pseudohypoparathyroidism type 1a: 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

Pseudohypoparathyroidism type 1a: Related Topics

These medical condition or symptom topics may be relevant to medical information for Pseudohypoparathyroidism type 1a:

• Pseudohypoparathyroidism
• Type
• Hypoparathyroidism (39 causes)
• Hypoparathyroidism syndrome
• Renal
• Renal symptoms (1125 causes)
• Renal disorder (24 causes)
• Renal pain (23 causes)
• Skeletal

Terms associated with Pseudohypoparathyroidism type 1a:

Terms Similar to Pseudohypoparathyroidism type 1a:

• Albright's hereditary osteodystrophy
• Seabright Bantam syndrome

Source: Diseases Database

External links related to: Pseudohypoparathyroidism type 1a

• OMIM - ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO
• pseudohypoparathyroidism
• Search Jablonski's Syndromes Database
• eMedicine - Pseudohypoparathyroidism : Article by Mini R Abraham, MD
• DermAtlas: Online Dermatology Image Library dermatology image,osteoma cutis,Albright hereditary osteodystrophy,pseudohypoparathyroidism
• DermAtlas: Online Dermatology Image Library dermatology image,osteoma cutis,Albright hereditary osteodystrophy,pseudohypoparathyroidism
• Martin-Albright syndrome (www.whonamedit.com)
• eMedicine - Albright Syndrome : Article by D Stanton Whittaker, Jr, MD

Source: Diseases Database

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