Turner Syndrome

Symptoms, Doctors, Treatments, Advances & More

Gonadal dysgenesis, also known as Turner syndrome, is a condition that only affects females. Turner syndrome occurs when one of the X chromosomes is partly or completely missing. Turner syndrome can cause several medical and developmental conditions.

Turner syndrome can have many symptoms. The most common sign of Turner syndrome is short stature that is evident by age 5. The next most common symptom is loss of ovarian function with delayed or no puberty. Additional symptoms of Turner syndrome are numerous and may include failure to thrive in infancy, swelling of the hands and feet, a webbed neck, low hairline at the back of neck, abnormal forearm bone, absent, inverted, or minimal nipples, turned out elbows, delayed skeletal maturation, wide thorax, funnel chest, lack of menstruation, female infertility, growth delay, weakened bones, osteoporosis, short or broad neck, fingerprint abnormalities, short fourth and fifth fingers, anxiety, behavioral abnormalities, impaired nonverbal behavior, cognitive abnormalities, learning disabilities, delayed social development, attention deficit disorder, neurodevelopmental delays, knock knees, hypothyroidism, autoimmune disorders, celiac disease, hearing impairment, recurrent ear infections, ear malformation, fatty liver, hypermobile toes, stubby toes, splayed toes, high blood pressure, underdeveloped toenails, tubular fingernails, tooth abnormalities, rounded back or curvature of the spine, low set ears, underdeveloped jaw, obesity, hair loss or baldness, heart defects, underdeveloped left heart, aortic defects, heart attack, aortic dissection, prominent eye folds, eyelid droop, liver fibrosis, hip dysplasia, horseshoe kidney, absent or malformed kidney, wrist deformity, pigmented moles, nearsightedness, eye misalignment, skin pigmentation disorders, flat foot, cirrhosis, gastrointestinal inflammation, pigmented moles, and melanoma.

Treatment for Turner syndrome is focused on individualized care for the associated symptoms and conditions. Treatment for Turner syndrome requires multidisciplinary care with a pediatrician, geneticist, vascular specialist, ophthalmologist, neurologist, nephrologist, endocrinologist, and dermatologist. Treatments for Turner syndrome include growth hormone therapy, estrogen therapy, and mental health care.