Polyglandular syndrome type 2 (PGS-2) is a rare disorder that affects the endocrine system. It is caused by a mutation in the AIRE gene and is characterized by the inability of the body to produce enough hormones from the endocrine glands. This leads to a variety of symptoms, such as fatigue, weakness, weight loss, anemia, hair loss, and infertility.
PGS-2 is an autosomal recessive disorder, meaning that both parents must pass on a copy of the mutated gene in order for their child to be affected. Symptoms typically begin in childhood or adolescence, although they can begin at any age.
The most common symptoms of PGS-2 are fatigue, weakness, weight loss, anemia, hair loss, and infertility. Other symptoms include joint pain, poor vision, headaches, and depression. PGS-2 can also lead to an increased risk of certain types of cancer, such as ovarian and breast cancer.
Treatment for PGS-2 is tailored to the individual patient and typically includes hormone replacement therapy, lifestyle changes, and in some cases, surgery. Hormone replacement therapy replaces the hormones that are not being produced by the body and can help to reduce symptoms. Lifestyle changes, such as exercise, stress reduction, and a healthy diet can also help to improve symptoms. Surgery may be recommended in some cases to remove any endocrine tumors or to treat infertility.
PGS-2 is a serious condition, but it can be managed with proper medical care and support. If you have any concerns about PGS-2, it is important to speak to your doctor.