Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment

@article{RichterUnruh2004ShortSI,
  title={Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment},
  author={Annette Richter-Unruh and Sabine A Knauer-Fischer and Stefan Kaspers and Beate Albrecht and G Gillessen-kaesbach and Berthold P. Hauffa},
  journal={European Journal of Pediatrics},
  year={2004},
  volume={163},
  pages={251-256}
}
Girls with unexplained short stature are routinely screened for the presence of Ullrich-Turner syndrome by clinical examination, laboratory tests, and karyotyping. In this study, we performed chromosomal analysis in boys to explore the role of 45,X/46,XY mosaicism for short stature in males. Short-term effects of growth hormone treatment in male 45,X/46,XY individuals were compared retrospectively to those in female patients. We report six boys with a normal-appearing male phenotype and 45,X/46… CONTINUE READING
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Syndrome of gonadal dysgenesis. Turner syndrome and its variants

  • MM Grumbach, IA Hughes, F Conti
  • In: Williams textbook of endocrinology,
  • 2003
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