Turner Syndrome Overview
Turner Syndrome (TS) is a genetic condition that only affects females and is characterized by a missing or partially missing second X chromosome. TS results in one out of 2,000 female births and 10% of miscarriages.
Girls and women with TS usually have common physiologic and physical features:
Associated health complications throughout the lifespan:
References:
Girls and women with TS usually have common physiologic and physical features:
- short stature
- square chest
- webbed neck
- forearm deformities (turning outward at the elbow)
- low set ears
- widely spaced nipples
- swollen hands and feet (especially when they’re born)
Associated health complications throughout the lifespan:
- The missing genetic material from the lack of one X chromosome prevents the ovaries from maturing, which does not allow the female body to develop normally. Many girls with TS do not go through puberty and never reach menarche, which can affect their fertility late in life.
- Some girls with TS suffer from learning disabilities as well.
- They are also more likely to develop kidney and vision complications, cardiovascular diseases and anomalies, osteoporosis, autoimmune and metabolic disorders, and skin problems.
- Women with TS have higher rates of certain tumors and cancers. Children with TS may have a varying degree of clinical presentations, creating challenges in diagnosis. There is currently no treatment for TS, but there are ways to manage related symptoms.
References:
- http://www.turnersyndrome.org/#!overview/ctzx
- http://www.aafp.org/afp/2007/0801/p405.html#sec-3
Screening & Assessment
Presenting Problems
Because the degree and severity of TS varies widely, some girls are diagnosed earlier than others based on physical traits that raise suspicion of a genetic anomaly. Presenting concerns can include:
Because the degree and severity of TS varies widely, some girls are diagnosed earlier than others based on physical traits that raise suspicion of a genetic anomaly. Presenting concerns can include:
- lyphedema (swelling of the extremities) at birth
- failure to grow in childhood
- lack of puberty or incomplete pubertal development
- amenorrhea (lack of menses)
- short stature
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Clinical features:
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Testing:
Risk Factors: There have been no risk factors associated with TS. TS is not a hereditary genetic condition.
- During pregnancy, certain anomalies can sometimes be seen in ultrasound, that may suggest TS in the fetus. A karyotype analysis should be performed using samples obtained through amniocentesis or chorionic villus sampling.
- A standard karyotype (from chromosomal analysis of 30 peripheral lymphocytes) can diagnose TS. About one half of patients with this syndrome have a missing X chromosome (45,X). Other patients with TS will have a combination of monosomy X and normal cells (45, X/46, XX; mosaic TS). The mosaic result does not necessarily predict severity because karyotyping only gives an indication from lymphocytes, not from other relevant tissues such as the brain, heart or ovaries.
Risk Factors: There have been no risk factors associated with TS. TS is not a hereditary genetic condition.
Articles
- Morgan, T. (2007). Turner Syndrome: Diagnosis and Management. Am Fam Physician, 76, 3, 405-417.
- Bondy, C. (2007) Clinical Practice Guideline: Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group. The Journal of Clinical Endocrinology & Metabolism, 92(1); 10-25.
- Levitsky, Luria, Hayes & Lin, (2015). Turner syndrome: update on biology and management across the life span. Curr Opin Endocrinol Diabetes Obes, 22, 1, 65-72. PMID: 25517026
- Lucaccioni, Wong, Smyth, Lyall, Dominiczak, Ahmed & Mason (2014). Turner syndrome: Issues to consider for transition to adulthood. British Med Bulletin. PMID: 25533182
- Lee & Conway (2014). Turner's syndrome: challenges of late diagnosis. Lancet Diabetes Endocrinology, 2, 4, 333-8. PMID: 24703051
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