47XYY syndrome is a rare sex chromosome variant with an extra Y chromosome. Most patients with a 47XYY karyotype have a normal phenotype. This disorder seems to be associated with a higher risk of developing behavior ...47XYY syndrome is a rare sex chromosome variant with an extra Y chromosome. Most patients with a 47XYY karyotype have a normal phenotype. This disorder seems to be associated with a higher risk of developing behavior and cognitive problems, tall stature and infertility in adulthood. We report here a rare case of 47, XYY syndrome associated with an 11-beta-hydroxylase deficiency revealed by a stature advance along with precocious puberty after obtaining informed consent from parents. To our knowledge, this is the first case reported in the literature.展开更多
文摘47XYY syndrome is a rare sex chromosome variant with an extra Y chromosome. Most patients with a 47XYY karyotype have a normal phenotype. This disorder seems to be associated with a higher risk of developing behavior and cognitive problems, tall stature and infertility in adulthood. We report here a rare case of 47, XYY syndrome associated with an 11-beta-hydroxylase deficiency revealed by a stature advance along with precocious puberty after obtaining informed consent from parents. To our knowledge, this is the first case reported in the literature.
