Tall Stature, Insulin Resistance, and Disturbed Behavior in a Girl with the Triple X Syndrome Harboring Three SHOX Genes: Offspring of a Father with Mosaic Klinefelter Syndrome but with Two Maternal X Chromosomes

  title={Tall Stature, Insulin Resistance, and Disturbed Behavior in a Girl with the Triple X Syndrome Harboring Three SHOX Genes: Offspring of a Father with Mosaic Klinefelter Syndrome but with Two Maternal X Chromosomes},
  author={Christina Kanaka-Gantenbein and Sophia Kitsiou and Ariadni Mavrou and Lela Stamoyannou and Aggeliki Kolialexi and Kyriaki Kekou and Magda Liakopoulou and George P. Chrousos},
  journal={Hormone Research in Paediatrics},
  pages={205 - 210}
Aims: To describe the tall stature and its possible underlying mechanism in a Caucasian girl (age 12 years and 10 months) with 46,XX (28%)/47,XXX (72%) mosaicism and to identify the parental origin of her extra X chromosome. Methods: The fasting glucose-to-insulin ratio was studied. The karyotypes of the girl and her parents as well as the presence of SHOX copies and the parental origin of her extra X chromosome were assessed. Results: Clinical examination revealed a tall stature and severe… 

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