Polyglandular Syndrome type 2 (PMS2) is a rare inherited disorder that affects the endocrine system, which is responsible for the production of hormones. It is caused by a mutation in the AIRE gene and is characterized by the presence of at least three endocrine glands that are not functioning properly.
The most common symptoms of PMS2 include fatigue, weight loss, muscle weakness, and joint pain. Other symptoms include anemia, low calcium levels, and low blood sugar levels. In addition, people with PMS2 may experience frequent infections due to decreased immunity and increased susceptibility to infection.
The endocrine glands affected by PMS2 include the adrenal glands, the thyroid gland, the pituitary gland, the parathyroid glands, and the gonads. As a result of the mutation, these glands do not produce enough of the hormones they are responsible for, leading to a variety of symptoms ranging from mild to severe.
In terms of the adrenal gland, people with PMS2 may experience fatigue, low blood sugar levels, and salt cravings. They may also have an enlarged thyroid gland, which can lead to weight gain, increased appetite, and difficulty losing weight. People with PMS2 may experience low calcium levels, which can result in muscle weakness and joint pain.
The pituitary gland, which regulates other endocrine glands, may not be functioning properly in people with PMS2. This can lead to a condition called hypopituitarism, which is characterized by a decrease in the production of hormones, such as growth hormone and cortisol.
Finally, the gonads, which are responsible for producing sex hormones such as testosterone and estrogen, can be affected in people with PMS2. This can lead to infertility, irregular menstrual cycles, and changes in sexual characteristics.
In summary, the symptoms of PMS2 vary from person to person and can range from mild to severe. The most common symptoms are fatigue, weight loss, muscle weakness, joint pain, anemia, low calcium levels, and low blood sugar levels. In addition, people with PMS2 may experience hypopituitarism and gonadal dysfunction, which can lead to infertility and other changes in sexual characteristics.