Isolated growth hormone deficiency type 3


Type of disease: Rare conditions

Isolated growth hormone deficiency type 3 is a rare genetic disease due to mutations in the BTK gene. Individuals with this disease do not have the normal amount of growth hormone. Growth hormone comes from the pituitary gland. The gland is responsible for keeping balance in the body. Without growth hormone, individuals are very short. They may also have a weaker immune system and be more likely to get nose or lung infections. The symptoms become more noticeable as the infant enters childhood. Puberty usually occurs late, but most individuals with this disease can still have children. Symptoms may begin in childhood or later in life. The symptoms may be very severe or relatively light. Isolated growth hormone deficiency type 3 is an X-linked recessive genetic disease. Males have an X and a Y chromosome while women have two X chromosomes. A male is more likely to get this disease because he needs just his one X chromosome to carry the gene mutation. Women need both of their X chromosomes to have a gene mutation. Isolated growth hormone deficiency type 3 can be treated by taking growth hormone. A doctor may prescribe medicine with growth hormone. Support groups like the MAGIC foundation provide resources and help to those with this disease and their families. Always speak with your doctor about the best personal plan of action.

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