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Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes.
J Clin Endocrinol Metab. 2008 Jan; 93(1):169-76.JC

Abstract

CONTEXT

Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles.

AIM

The aim of the study was to evaluate the role of abnormal chromosome constitution for longitudinal growth in relation to reproductive hormones, IGF-I, and IGF binding protein (IGFBP)-3.

SETTING

The study was conducted at an outpatient clinic, Copenhagen University Hospital.

PARTICIPANTS

Participants included 86 47,XXY males, 14 46,XX-males, and nine 47,XYY.

MAIN OUTCOME MEASURES

Standing and sitting height, serum levels of reproductive hormones, IGF-I, and IGFBP-3 were measured.

RESULTS

In boys with 47,XXY and 47,XYY karyotypes, growth was accelerated already in childhood, compared with healthy boys. 46,XX-males were significantly shorter than healthy boys but matched the stature of healthy girls. In 47,XXY sitting height to height ratios were lower than expected, whereas body proportions in 46,XX-males and 47,XYY were normal. In all subjects serum levels of IGF-I and IGFBP-3 were within normal limits. The boys with 46,XX and 47,XXY karyotypes presented with low normal testosterone and elevated LH levels after puberty, whereas the sex hormone secretion of the 47,XYY boys remained normal.

CONCLUSION

We found accelerated growth in early childhood in boys with 47,XXY and 47,XYY karyotypes, whereas 46,XX-males were shorter than controls. These abnormal growth patterns were not reflected in circulating levels of IGF-I and IGFBP-3. The boys with 46,XX and 47,XXY karyotypes developed hypogonadism in puberty, but androgen secretion in 47,XYY boys remained normal. The abnormal stature of these patients may be a result of abnormal gene expression due to the underlying chromosome aberration resulting in excessive expression of growth-related genes.

Authors+Show Affiliations

Aksglaede L
University Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark. lise.aksglaede@rh.hosp.dk
Skakkebaek NE
No affiliation info available
Juul A
No affiliation info available

MeSH

AdolescentAdultBody HeightChildChild, PreschoolChromosomes, Human, YEstradiolFollicle Stimulating HormoneGrowthHumansInfantInsulin-Like Growth Factor Binding Protein 3Insulin-Like Growth Factor IKlinefelter SyndromeLongitudinal StudiesLuteinizing HormoneMaleMiddle AgedSex Chromosome AberrationsTestosteroneXYY Karyotype

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17940117

Citation

Aksglaede, Lise, et al. "Abnormal Sex Chromosome Constitution and Longitudinal Growth: Serum Levels of Insulin-like Growth Factor (IGF)-I, IGF Binding Protein-3, Luteinizing Hormone, and Testosterone in 109 Males With 47,XXY, 47,XYY, or Sex-determining Region of the Y Chromosome (SRY)-positive 46,XX Karyotypes." The Journal of Clinical Endocrinology and Metabolism, vol. 93, no. 1, 2008, pp. 169-76.
Aksglaede L, Skakkebaek NE, Juul A. Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes. J Clin Endocrinol Metab. 2008;93(1):169-76.
Aksglaede, L., Skakkebaek, N. E., & Juul, A. (2008). Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes. The Journal of Clinical Endocrinology and Metabolism, 93(1), 169-76.
Aksglaede L, Skakkebaek NE, Juul A. Abnormal Sex Chromosome Constitution and Longitudinal Growth: Serum Levels of Insulin-like Growth Factor (IGF)-I, IGF Binding Protein-3, Luteinizing Hormone, and Testosterone in 109 Males With 47,XXY, 47,XYY, or Sex-determining Region of the Y Chromosome (SRY)-positive 46,XX Karyotypes. J Clin Endocrinol Metab. 2008;93(1):169-76. PubMed PMID: 17940117.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes. AU - Aksglaede,Lise, AU - Skakkebaek,Niels E, AU - Juul,Anders, Y1 - 2007/10/16/ PY - 2007/10/18/pubmed PY - 2008/3/5/medline PY - 2007/10/18/entrez SP - 169 EP - 76 JF - The Journal of clinical endocrinology and metabolism JO - J Clin Endocrinol Metab VL - 93 IS - 1 N2 - CONTEXT: Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles. AIM: The aim of the study was to evaluate the role of abnormal chromosome constitution for longitudinal growth in relation to reproductive hormones, IGF-I, and IGF binding protein (IGFBP)-3. SETTING: The study was conducted at an outpatient clinic, Copenhagen University Hospital. PARTICIPANTS: Participants included 86 47,XXY males, 14 46,XX-males, and nine 47,XYY. MAIN OUTCOME MEASURES: Standing and sitting height, serum levels of reproductive hormones, IGF-I, and IGFBP-3 were measured. RESULTS: In boys with 47,XXY and 47,XYY karyotypes, growth was accelerated already in childhood, compared with healthy boys. 46,XX-males were significantly shorter than healthy boys but matched the stature of healthy girls. In 47,XXY sitting height to height ratios were lower than expected, whereas body proportions in 46,XX-males and 47,XYY were normal. In all subjects serum levels of IGF-I and IGFBP-3 were within normal limits. The boys with 46,XX and 47,XXY karyotypes presented with low normal testosterone and elevated LH levels after puberty, whereas the sex hormone secretion of the 47,XYY boys remained normal. CONCLUSION: We found accelerated growth in early childhood in boys with 47,XXY and 47,XYY karyotypes, whereas 46,XX-males were shorter than controls. These abnormal growth patterns were not reflected in circulating levels of IGF-I and IGFBP-3. The boys with 46,XX and 47,XXY karyotypes developed hypogonadism in puberty, but androgen secretion in 47,XYY boys remained normal. The abnormal stature of these patients may be a result of abnormal gene expression due to the underlying chromosome aberration resulting in excessive expression of growth-related genes. SN - 0021-972X UR - https://www.unboundmedicine.com/medline/citation/17940117/Abnormal_sex_chromosome_constitution_and_longitudinal_growth:_serum_levels_of_insulin_like_growth_factor__IGF__I_IGF_binding_protein_3_luteinizing_hormone_and_testosterone_in_109_males_with_47XXY_47XYY_or_sex_determining_region_of_the_Y_chromosome__SRY__positive_46XX_karyotypes_ DB - PRIME DP - Unbound Medicine ER -