Clinical Phenotype of Turner Syndrome
Turner Syndrome is a genetic abnormality specific to females in which one of the X chromosomes that females typically have is either partially or completely deleted. Some females with TS show an isochromatic pattern in which every cell has only one X chromosome. The mosaic pattern is a more common genetic pattern in females with TS: if the genetic abnormality occurs when the embryo undergoes its first cell division, 50% of the future cells which develop in utero will have a missing or a partially deleted X chromosome. If the genetic abnormality occurs later in cell division, fewer cells will be affected. A karyotype test uses blood or body fluids to analyze chromosomes and can identify the specific genetic abnormality.Â
TS is most often diagnosed prenatally or infancy, late prepubescence, and during late adolescence or early adulthood. As a consequence, there may be girls already in school who have not been diagnosed but who may have the physical, medical, cognitive and/or social issues associated with TS.Â
The most common observable physical characteristics include short stature relative to chronological age, broad neck, and low posterior hairline. Common medical issues include hypertension, middle ear infections, edema of hands or feet, and serious cardiac anomalies. Other characteristics related to TS may be specifically connected to the part of the X chromosome which is missing in the deletion.
School nurses play an important role in prioritizing the health of all students but girls with TS may present a variety of physical issues that require close attention since there is an increased risk of ear infections and hearing defects, hypertension, glucose intolerance, nearsightedness and decreased bone mineral count. The Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome is a resource that is particularly useful to the medical practitioners who treat those with TS, and may be helpful in understanding the full range of recommendations for evaluation and treatment.Â
While it is estimated that 90% of women with TS have average or above average intelligence with strengths in various aspects of verbal and written communication, common academic challenges include difficulty with mathematics, nonverbal learning disabilities, issues with executive functioning and attention. Social anxiety and immature social skills are also relevant in the social context of school settings. However, it must be noted here that TS is a spectrum disorder and each person will have a unique set of strengths and weaknesses.
