What Medical Problems Can Patients with Turner Syndrome Have?

Patient Presentation
A 6-year-old female with known Turner Syndrome (TS) came to clinic for her health maintenance examination. She had just finished kindergarten which she enjoyed. Her parents’ main concern was about attentional issues as her teacher had noted that she seemed more distracted in the classroom. The teacher was able to help redirect her and at this time did not have any concerns about her learning. Her parents noted that she did need more redirection and they had to do more physical redirection or verbally pointing out social cues to her at home. Currently, these issues generally did not cause any problems in the family or for the child. She was well-liked by teachers, peers and her family. The past medical history revealed that she was diagnosed around birth because of growth retardation, lymphedema, webbed neck, shield chest, and shorted metacarpal bones. She had been comprehensively managed by specialists at the local children’s hospital. She had no cardiac defects, hearing loss or hypothyroidism. She had multiple episodes of otitis media which required 2 sets of pressure equalizing tubes. She also had 1 urinary tract infection and was known to have a duplicated renal collecting system. The review of systems was normal.

The pertinent physical exam showed a smiley school-age female with normal vital signs. Her weight was 10% (on a normal growth chart). Her height was 102 centimeters (5% on normal growth charts and 50% for height on TS growth chart) and was consistent with previous measurements. She had wide-spaced nipples, webbing of her neck, short 4th metacarpal bones bilaterally, and an increased carrying angle to her arms. She had otosclerosis bilaterally. Her thyroid was not enlarged and her cardiac examination had no murmurs. She was Tanner 1 for pubertal development. The rest of her examination was unremarkable.

The diagnosis of a healthy child with TS was made. In addition to reviewing that she was properly following up with her multiple specialists at the children’s hospital, the pediatrician made sure that she had a dental home and her immunizations were complete. “I know that people with Turner Syndrome can have more problems with learning and also with attention problems. At this time you and the teachers seem to be meeting her social and school needs and she isn’t have problems, but I can refer you to a psychologist who could do an initial evaluation for her attention plus give us more insights if she has other learning needs. We can also wait a few months and monitor her closely and then refer her. I don’t want to overlook the things her teacher and you are seeing,” he said. After some discussion, the parents decided to make the psychology appointment so they could continue to understand their daughter’s needs and try to meet them.

Turner Syndrome (TS) is one of the most common genetic disorders in females. It was first described by Dr. Henry H. Turner in 1938. It affects 1 in 2000-2500 births and ~70,000 girls and women have TS in the United States. It is caused by the absence of all or part of the second X chromosome. The most common variation is 45X which affects about 50% of TS patients and usually has the most complications, but there are other variations. Phenotypes vary and therefore the age of diagnosis varies. Mean age of diagnosis unfortunately is 15 years. Diagnosis is made by chromosomal analysis. Haploinsufficiency of the SHOX gene is associated with short stature in Turner syndrome.

Patient presentations depend on age and phenotype. Most (almost all) TS patients have short stature and primary ovarian failure, but patients can have a variety of medical problems. Patients need comprehensive management from a variety of specialists to address their medical and psychosocial needs throughout their lifetime. Recommendations for comprehensive management can be found in the To Learn More section below.

Learning Point
Medical problems that patients with Turner Syndrome can have include:

  • *Short stature/growth retardation – almost 100% of patients
    • Short stature occurs in almost all patients with an average of 8 in (20 cm) shorter than predicted mid-parental height. Final adult height has been dramatically improved with growth hormone treatment. Short stature or growth failure are reasons to consider TS in females at any age as this can be the only sign of TS. Special growth charts are available for monitoring TS patients.
  • Endocrine – almost 100% of patients
    • *Primary ovarian failure
      • Patients have a hypoplastic sometimes “streaked” ovary with few or no follicles. Estrogen is inadequately produced and patients often have delayed puberty.
    • *Delayed puberty or pubertal arrest
    • *Infertility
      • Infertility is common. Having TS may be a relative contraindication to pregnancy because of higher risk of maternal complications.
    • Diabetes
    • *Thyroid disorders
  • Lymphatic
    • *Nuchal lucency on prenatal ultrasound
    • Cystic hygroma
    • *Lymphedema
    • Webbed neck with or without lower hairline
  • *Cardiac anomalies – 30-50% of patients
    • Mainly left sided anomalies and is the most common reason for premature mortality
    • Bicuspid aortic valve
    • Aortic coarctation
    • Aorta, dilated
  • Cognition/Educational/Psychological
    • Patients have normal intelligence but may have other problems
    • Attention deficit/hyperactivity disorder
    • Mathematics problems
    • Mental health issues – anxiety, decreased self-esteem, social isolation
    • Non verbal impairments – visual-spatial, problem-solving, social cognition and other executive function problems
  • Gastrointestinal
    • Celiac disease
    • Liver disease
    • Obesity
  • Renal
    • *Collecting duct anomalies
    • Horseshoe kidney
    • Hypertension
  • Skeletal
    • Shield chest with inverted/wide-spaced nipples
    • Nail hypoplasia
    • Short 4th metacarpal/metatarsal
    • Cubitus valgus (increased carrying angle)
    • Madelung deformity of the wrist
    • High arched palate
    • Micrognathia/retrognathia
    • Dental malocclusions
    • Hip dislocation
    • Scoliosis/kyphosis
    • Pes planus
    • Osteoporosis
  • Ophthalmology
    • Hyperopia
    • Strabismus
  • Otolaryngology
    • *Hearing loss – sensorineural and conductive
    • Abnormal ear position – low set or rotated
    • Otitis media

* some of the most common medical problems

Questions for Further Discussion
1. How are Turner Syndrome and Kleinfelter syndrome similar?
2. What is the role of the primary care provider in the care of patients with multiple medical problems?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Turner Syndrome

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Turner Syndrome Society of the United States. Available from the Internet at http://www.turnersyndrome.org.

Bondy CA, Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007 Jan;92(1):10-25.

Milbrandt T, Thomas E. Turner syndrome. Pediatr Rev. 2013 Sep;34(9):420-1.

Lee MC, Conway GS. Turner’s syndrome: challenges of late diagnosis. Lancet Diabetes Endocrinol. 2014 Apr;2(4):333-8.

Kingery SE, Wintergerst KA. Turner Syndrome and Klinefelter Syndrome. Adolesc Med State Art Rev. 2015 Aug;26(2):411-27.

Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa Children’s Hospital