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

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  • Anne Marie Ottesen, Denmark
  • Lise Aksglæde, Denmark
  • Inger Garn, Denmark
  • Nicole Tartaglia, Denmark
  • Flora Tassone, Denmark
  • Claus H Gravholt
  • Anders Bojesen
  • Kaspar Sørensen, Denmark
  • Niels Jørgensen, Denmark
  • Ewa Rajpert-De Meyts, Denmark
  • Tommy Gerdes, Denmark
  • Anne-Marie Lind, Denmark
  • Susanne Kjærgaard, Denmark
  • Anders Juul, Denmark
  • Department for Clinical Genetics
  • The Department of Endocrinology and Diabetes
  • Department of Molecular Biology
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
JournalAmerican Journal of Medical Genetics. Part A
Volume152A
Issue5
Pages (from-to)1206-12
Number of pages6
ISSN1552-4825
DOIs
Publication statusPublished - 2010

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