Turner Syndrome

Turner syndrome is a chromosomal disorder in which a female is born with only one X chromosome. This can cause issues such as short stature, delayed puberty and heart defects, among others.

Turner syndrome is a type of dwarfism that only affects females. In addition to being short in stature, girls with Turner syndrome often have heart defects and their ovaries do not develop normally. Often girls with Turner syndrome grow normally, then around age 5 their growth slows and their short stature becomes noticeable.

Causes

Turner syndrome is a chromosomal disorder that affects girls with the complete or partial absence of an X chromosome (the sex chromosome for females). The cause of Turner syndrome is unknown.

Symptoms

Common signs and symptoms related to Turner syndrome are:

• Puffy hands and feet at birth
• Feeding problems during infancy
• Minor differences in the shape and position of ears
• Ovaries stop functioning correctly, usually causing infertility
• Prevents puberty
• Extra folds of skin on the neck
• Kidney problems
• Heart defects
• May have learning disabilities, developmental delays or behavioral problems

Diagnosis

Sometimes a doctor can diagnose the condition before birth using an ultrasound. However, sometimes a baby must be born before she can be diagnosed. To determine if your child has Turner syndrome, your doctor may conduct tests such as:

• Blood tests
• Echocardiogram
• Ultrasound
• Pelvic exam
• MRI

Treatment

Every child is different and treatment will depend on your child’s specific symptoms. Our expert doctors will determine the best course of treatment based on multiple factors and discuss all options for the best outcome for your child.

Non-Surgical Treatment

One symptom of Turner syndrome is it can prevent puberty, unless hormone therapy is used. Your child’s doctor may recommend:

• Estrogen therapy
• Progesterone therapy

‍Other non-surgical treatments your doctor may recommend to treat Turner syndrome include:

• Growth hormone therapy