The evaluation of Turner's syndrome begins with a history and physical exam.

Physical findings in a female with Turner's syndrome include:

• Cystic hygroma
• A fluid-filled cavity in the neck
• Webbed neck
• Foot swelling (bilateral)
• Hand swelling (bilateral)
• Slow growth
• Short stature:
• Average height of an adult woman with Turner's syndrome who has received human growth hormone treatment is 4 feet 8 inches.
• Delayed puberty
• Amenorrhea
• Irregular menstrual periods
• Infertility:
• Premature ovarian failure
• Receding lower jaw
• Low set ears
• Low hairline
• Slight droop to eyes
• Strabismus
• Broad chest
• Flat feet
• Scoliosis

Genetic tests are necessary to make the diagnosis of Turner's syndrome.

Tests that may be used to evaluate Turner's syndrome include:

• Karyotype.