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Chang Davidson Carlson Syndrome

What is Chang Davidson Carlson syndrome?

Chang Carlson Davidson syndrome is a rare genetic disorder.  This condition is characterized by the visual disorder known as Retinitis Pigmentosa, the development disorder known as Hypogonadism and renal failure.

What are the symptoms of Chang Davidson Carlson syndrome?

  • Hypogonadism: This symptom presents itself as a lower ability of the male and female sexual organs to function. This includes the inability of the male testicles and female ovaries to perform the necessary functions for sexual development and function. This leads to not only physical underdevelopment of the body during puberty, but infertility as well.
  • Retinitis pigmentosa: This causes a progressive loss of vision
  • Renal Failure: This is a progressive loss of the kidneys to perform their normal function.  This loss in function causes an excessive fluid and waste products in the body. This can lead to confusion, shortness of breath, heart problems and death.
  • Social and behavioral problems: Problems with social interaction due to the symptoms of this disease can lead to a number of difficulties with socialization as well as lead to increased stress and adjustment difficulties.

What causes Chang Davidson Carlson syndrome?

The cause of this disease is largely unknown. It is believed to be genetic and inherited from an autosomal recessive trait.

Are there treatment options for Chang Davidson Carlson syndrome?

Currently treatment options are being studied. A known treatment is the administration of recombinant human luteinizing hormone.  This is approved for treatment in females.

Where can I find more information about Chang Davidson Carlson syndrome?

Chang Davidson Carlson Syndrome Articles