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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
Albright hereditary osteodystrophy

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Description

Albright hereditary osteodystrophy (AHO) is a genetic disorder that affects the bones, skin, and endocrine system. It is caused by a mutation in the GNAS1 gene, which is responsible for producing the Gs alpha protein. This protein is involved in the regulation of hormones, such as parathyroid hormone and growth hormone. Symptoms of AHO include short stature, obesity, round face, and short hands and feet. Other symptoms include abnormal bone development, such as thickening of the long bones, and abnormal skin pigmentation. People with AHO may also have problems with their endocrine system, such as hypothyroidism, hyperthyroidism, and diabetes. Treatment for AHO is focused on managing the symptoms and includes hormone replacement therapy, calcium and vitamin D supplementation, and physical therapy.

Synonyms
  • PHP1A
  • PHP IA
  • PHP IC
  • Type IA pseudihypoparathyroidism
  • Type IC pseudohypoparathyroidism

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