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Turner Syndrome


What is Turner syndrome?

Turner syndrome (45,X) is a genetic disorder that occurs only in females and arises from partial or complete absence of the X chromosome. H.H.Turner first described Turner syndrome in 1938 and the chromosomal basis of this syndrome was established in 1959 by Ford. Turner syndrome occurs in 1 in 2500 female births.

The physical phenotype of this syndrome includes:

  • gonadal dysgenesis
  • lack of pubertal maturation
  • infertility
  • short stature
  • shield chest
  • webbing of the neck
  • coarctation of the aorta
  • horseshoe kidney

The neurocognitive profile of females with Turner syndrome includes:

  • Preserved verbal skills
  • Specific deficits in visuo-spatial tasks, visual memory, and arithmetic
  • Verbal IQ is greater than Performance IQ

The psychosocial profile of females with Turner syndrome includes:

  • Difficulty with school adjustment and facial affect recognition
  • Social hypersensitivity
  • Poor peer relations

What causes Turner Syndrome?

Turner syndrome is the only sex chromosome disorder in which complete absence of an X chromosome is compatible with life. The loss of one of the sex chromosomes in Turner syndrome probably occurs after the zygote has formed or just after the fusion of the gametes. It has been determined that approximately 50% of cases have a 45,X karyotype with the remainder having mosaic karyotypes. In addition, it has been found that in 70 to 80 % of the cases, the retained X is maternal in origin. Researchers have begun to speculate as to the possibility that genes are present on the X chromosome which are expressed differently depending on the parental origin of the X chromosome. The effects of genomic imprinting can be analyzed from the standpoint of physical and physiologic parameters in females with Turner syndrome.

Current TS Research at Stanford

We currently have several research studies involving TS:

Genes, Brain and Behavior

  • The overarching goal of this project is to increase our knowledge of brain development and cognitive functioning in girls with Turner syndrome.

  • We are examining the role of parental origin of the X chromosome on behavior, psychological functioning, and brain development.

  • We are also seeking to expand our knowledge on the role of sex hormones on brain development and function.

  • We are examining brain development, cognitive outcome and qualify of life over time and how these factors relate to growth hormone and estrogen replacement therapies.

Using fMRI we have developed experiments that will provide more information about attention span, short-term memory, visuo-spatial skills and arithmetic in order to improve educational interventions in individuals with Turner syndrome in the future.

Treatment for Math and Visual-Spatial Difficulties

  • We are evaluating the effectiveness of treatment programs involving computerized, home-based cognitive exercises for improving math skills and visual-spatial problem solving.

Study Results

Functional Imaging in Turner Syndrome.

Structural Imaging in Turner Syndrome.

 
Turner
Syndrome


Studies

Publications

Participating
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