Turner syndrome is a chromosomal disorder that affects females and is caused by a complete or partial loss of the second sex chromosome. It is typically characterized by short stature, ovarian insufficiency, and malformations in organ systems. The syndrome occurs in approximately 1 in 2000 to 2500 live female births worldwide. Diagnosis involves history, physical exam, sensory testing, laboratory tests, echocardiography and genetic testing. Treatment focuses on growth hormone therapy, estrogen replacement therapy, and reproductive technologies.