Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy

Anne Marie Ottesen, Lise Aksglaede, Inger Garn, Nicole Tartaglia, Flora Tassone, Claus H. Gravholt, Anders Bojesen, Kaspar Sørensen, Niels Jørgensen, Ewa Rajpert De Meyts, Tommy Gerdes, Anne Marie Lind, Susanne Kjaergaard, Anders Juul

Research output: Contribution to journalArticle

95 Scopus citations

Abstract

Tall stature and eunuchoid body proportions characterize patients with 47,XXY Klinefelter syndrome, whereas patients with 45,X Turner syndrome are characterized by impaired growth. Growth is relatively well characterized in these two syndromes, while few studies describe the growth of patients with higher grade sex chromosome aneuploidies. It has been proposed that tall stature in sex chromosome aneuploidy is related to an overexpression of SHOX, although the copy number of SHOX has not been evaluated in previous studies. Our aims were therefore: (1) to assess stature in 305 patients with sex chromosome aneuploidy and (2) to determine the number of SHOX copies in a subgroup of these patients (n=255) these patients and 74 healthy controls.Median height standard deviation scores in 46,XX males (n=6) were -1.2 (-2.8 to 0.3), +0.9 (-2.2 to +4.6) in 47,XXY (n=129), +1.3 (-1.8 to +4.9) in 47,XYY (n=44), +1.1 (-1.9 to +3.4) in 48,XXYY (n=45), +1.8 (-2.0 to +3.2) in 48,XXXY (n=9), and -1.8 (-4.2 to -0.1) in 49,XXXXY (n=10). Median height standard deviation scores in patients with 45,X (n=6) were -2.6 (-4.1 to -1.6), +0.7 (-0.9 to +3.2) in 47,XXX (n=40), -0.6 (-1.9 to +2.1) in 48,XXXX (n=13), and -1.0 (-3.5 to -0.8) in 49,XXXXX (n=3). Height increased with an increasing number of extra X or Y chromosomes, except in males with five, and in females with four or five sex chromosomes, consistent with a nonlinear effect on height.

Original languageEnglish (US)
Pages (from-to)1206-1212
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number5
DOIs
StatePublished - May 2010

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Keywords

  • Klinefelter syndrome
  • SHOX copy number
  • Tall stature
  • X and Y chromosomes
  • XXY

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Ottesen, A. M., Aksglaede, L., Garn, I., Tartaglia, N., Tassone, F., Gravholt, C. H., Bojesen, A., Sørensen, K., Jørgensen, N., Meyts, E. R. D., Gerdes, T., Lind, A. M., Kjaergaard, S., & Juul, A. (2010). Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy. American Journal of Medical Genetics, Part A, 152(5), 1206-1212. https://doi.org/10.1002/ajmg.a.33334