Guide To Endocrine System Diseases

Turner Syndrome

Turner syndrome is a genetic condition that occurs in girls, and it develops when one of the X chromosomes is partially or entirely absent. Patients with Turner syndrome may have heart and kidney abnormalities before birth, and these can be detected with a prenatal ultrasound. The ultrasound might also show abnormal fluid collection at the back of the neck. Other symptoms may become apparent at birth or during infancy. For example, patients could have a wide neck, swollen hands or feet, delayed growth, short fingers and toes, and low-set ears. In childhood and into adulthood, the patient might attain a height that is significantly less than other females in the family, and sexual development may begin late or stall during the teenage years. Turner syndrome patients often need fertility treatment to become pregnant. Turner syndrome may be diagnosed prenatally with amniocentesis or chorionic villus sampling. Treatment options include estrogen therapy and growth hormone therapy, and patients will need regular checkups throughout their lives.

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