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Sex Chromosome Aneuploidy and Anthropometry

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Handbook of Anthropometry

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Abstract

Human growth is a highly complicated process influenced by genetic, hormonal, environmental, dietary, metabolic and socioeconomic factors. Although the interaction between sex steroids and the growth hormone (GH)-IGF-axis is of major importance in regulating growth, multiple genetic factors, including genes located on the sex chromosomes play independent roles. Sex chromosome aneuploidy is the most common chromosome disorder in humans, with an incidence of 1 in 400 newborns. The most frequent type of aneuploidy involve the addition or deletion of an X or Y chromosome resulting in a 47,XXX, 45,X, 47,XXY or 47,XYY karyotype. The clinical and behavioural characteristics of these conditions are relatively well described in the literature, whereas, the addition of more than one extra sex chromosome is rare and relevant clinical information is limited. Sex chromosome aneuploidies have a high but varying impact on normal growth, and disorders of growth may be the first or only symptom of an underlying genetic disorder. Interestingly, the presence of supernumerary sex chromosomes affects growth in a dimorphic pattern indicating that genes on the X and the Y chromosome affect height in a different manner.

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Abbreviations

E2:

Estradiol

FSH:

Follicle stimulating hormone

KS:

Klinefelter syndrome

LH:

Luteinizing hormone

IGF-I:

Insulin like growth factor I

IGFBP-3:

Insulin like growth factor binding protein 3

SDS:

Standard deviation score

SHOX:

Short stature homeobox containing gene

SRY :

Sex determining region of the Y chromosome

T:

Testosterone

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Authors and Affiliations

  1. Department of Growth and Reproduction GR, Rigshospitalet, Section 5064, Blegdamsvej 9, DK-2100, Copenhagen Ø, Denmark

    Lise Aksglaede

Authors
  1. Lise Aksglaede
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  2. Niels Erik Skakkebæk
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  3. Anders Juul
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Corresponding author

Correspondence to Lise Aksglaede .

Editor information

Editors and Affiliations

  1. Dept. Nutrition & Dietetics, King's College, Stamford St. 150, London, SE1 9NH, United Kingdom

    Victor R. Preedy

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Aksglaede, L., Skakkebæk, N.E., Juul, A. (2012). Sex Chromosome Aneuploidy and Anthropometry. In: Preedy, V. (eds) Handbook of Anthropometry. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1788-1_99

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  • DOI: https://doi.org/10.1007/978-1-4419-1788-1_99

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