Turner Syndrome

What is Turner syndrome?

Turner syndrome, a rare chromosomal disorder that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing.  

Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.  

What are the symptoms of Turner syndrome?   

Prenatal ultrasound of a baby with Turner syndrome may show:   

• Large fluid collection on the back of the neck or other abnormal fluid collections (edema)  
• Heart abnormalities  
• Abnormal kidneys 

Signs of Turner syndrome at birth or during infancy may include:   

• Wide or weblike neck 
• Low-set ears 
• Broad chest with widely spaced nipples 
• High, narrow roof of the mouth 
• Arms that turn outward at the elbows 
• Fingernails and toenails that are narrow and turned upward 
• Swelling of the hands and feet, especially at birth 
• Slightly smaller than average height at birth 
• Slowed growth 
• Cardiac defects
• Low hairline at the back of the head 
• Receding or small lower jaw 
• Short fingers and toes 

Signs and symptoms for children, teens, and adults include: 

• Slowed growth 
• No growth spurts at expected times in childhood 
• Adult height significantly less than might be expected for a female member of the family 
• Failure to begin sexual changes expected during puberty 
• Sexual development that “stalls” during teenage years 
• Early end to menstrual cycles not due to pregnancy 
• For most women with Turner syndrome, inability to conceive a child without fertility treatment 

What causes Turner syndrome?   

Turner syndrome is caused by partial or complete loss (monosomy) of one of the X chromosomes. 

In females with Turner syndrome, all or a portion of one of the X chromosomes is missing. The reason that this occurs is unknown and is believed to result from a random event. In some cases, the chromosomal abnormality appears to arise spontaneously due to an error in the division of a parent’s reproductive cells, either in the father’s sperm or the mother’s egg. This results in the genetic error being contained in all cells of the body. 

How is Turner syndrome diagnosed?

If, based on signs and symptoms, the doctor suspects that a child has Turner syndrome, a lab test will typically be done to analyze the child’s chromosomes.  

The test involves a blood sample. Occasionally, the doctor also may request a cheek scraping (buccal smear) or skin sample.  

The chromosome analysis determines whether or not there is a missing X chromosome or abnormality of one of the X chromosomes. 

What are the treatments for Turner syndrome?

 Because symptoms and complications vary, treatments are tailored to address a child’s particular problems. Evaluation and monitoring for medical or mental health issues associated with Turner syndrome throughout life can help to address problems early.   

The primary treatments for nearly all girls and women with Turner syndrome include hormone therapies. For most girls, growth hormone therapy — usually given daily as injections of recombinant human growth hormone — is recommended to increase height as much as possible at appropriate times during early childhood until the early teen years. S 

Estrogen therapy is another option. Most girls with Turner syndrome need to start estrogen and related hormone therapy in order to begin puberty. Often, estrogen therapy is started around age 11 or 12 years. Estrogen helps to promote breast development and improve the size (volume) of the uterus. Estrogen helps with bone mineralization, and when used with growth hormone, may also help with height. 

Where can I find out more about Turner syndrome?

• National Organization for Rare Disorders (NORD) 
• Mayo Clinic   
• NIH 
• The MAGIC Foundation