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Addison's Disease, Genetic Testing

Addison's disease is a rare disorder in which the adrenal glands are unable to produce adequate hormones, particularly cortisol and aldosterone. This hormonal deficiency can lead to symptoms such as fatigue, weight loss, low blood pressure, and changes in skin pigmentation. Treatment includes lifelong hormone replacement therapy to manage hormonal imbalances and relieve symptoms. The assessment of the Polygenic Risk Score for Addison's disease is based on examining 8 gene polymorphisms.

Genetic testing for Addison's disease is included along with 13 other diseases in the Genetic Screening for Endocrine and Genitourinary Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

The origin of the disease is the lesion of the adrenal glands. Adrenal insufficiency can be of two types:

  • Primary: it usually has an autoimmune origin, and consequently, the gland's outer layer is damaged. Other causes may include infections such as tuberculosis, cancer in this area, or bleeding.
  • Secondary: the pituitary gland releases certain hormones that stimulate the adrenal glands. The presence of tumors (cancerous or not) in the pituitary gland, as well as its inflammation or surgery, can cause this stimulation not to occur, and the adrenal gland does not release enough hormones.

Symptoms usually appear gradually over months. It is widespread for the disease to progress very slowly in the beginning and for a stressful episode to worsen the symptoms. Among the most common symptoms are the following:

  • Very marked fatigue
  • Loss of weight and appetite
  • Darkening of some regions of the skin
  • Low blood pressure
  • Preference for salty foods
  • Hypoglycemia
  • Nausea, diarrhea, and/or vomiting
  • Muscle and/or abdominal pain
  • Hair loss

Although infrequent, symptoms may begin suddenly and can be life-threatening, so if symptoms such as extreme weakness, confusion, lower back pain, severe vomiting and diarrhea, decreased consciousness, and/or low blood pressure occur, seek immediate medical help.


There is no way to prevent Addison`s disease, although there are ways to minimize crises. Early diagnosis of the disease is important. Once diagnosed, correct treatment based mainly on corticosteroids is essential to prevent symptoms.

Additional information
Results Time4 - 5 Weeks
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