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Vol. 61, No. 5, 2004
Issue release date: April 2004
Section title: Case Report
Horm Res 2004;61:205–210
(DOI:10.1159/000076532)

Tall Stature, Insulin Resistance, and Disturbed Behavior in a Girl with the Triple X Syndrome Harboring Three SHOX Genes: Offspring of a Father with Mosaic Klinefelter Syndrome but with Two Maternal X Chromosomes

Kanaka-Gantenbein C.a · Kitsiou S.b · Mavrou A.b · Stamoyannou L.a · Kolialexi A.b · Kekou K.b · Liakopoulou M.a · Chrousos G.P.a,c
aFirst Department of Pediatrics and bDepartment of Medical Genetics, Aghia Sophia Children’s Hospital, University of Athens, Athens, Greece; cPediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Md., USA

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Article / Publication Details

First-Page Preview
Abstract of Case Report

Received: 7/3/2003
Accepted: 11/26/2003
Published online: 4/23/2004
Issue release date: April 2004

Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 2

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP

Abstract

Aims: To describe the tall stature and its possible underlying mechanism in a Caucasian girl (age 12 years and 10 months) with 46,XX (28%)/47,XXX (72%) mosaicism and to identify the parental origin of her extra X chromosome. Methods: The fasting glucose-to-insulin ratio was studied. The karyotypes of the girl and her parents as well as the presence of SHOX copies and the parental origin of her extra X chromosome were assessed. Results: Clinical examination revealed a tall stature and severe acne, and endocrinological/metabolic assessment revealed insulin resistance. Fluorescence in situ hybridization cytogenetic analysis depicted the presence of three SHOX genes in the 47,XXX cell line of the patient. Karyotyping of her parents showed a normal 46,XX karyotype in the mother and 46,XY(93%)/47,XXY(7%) Klinefelter mosaicism in the father. However, DNA analysis unequivocally showed maternal origin of the extra X chromosome of the patient. Conclusions: This report suggests that SHOX gene triplication may produce a tall stature, even in the presence of preserved ovarian function. X triplication might predispose to insulin resistance and behavioral disorders.

© 2004 S. Karger AG, Basel


  

Author Contacts

Christina Kanaka-Gantenbein, MD
Tymfristou 52, Halandri
GR–15234 Athens (Greece)
Tel. +30 210 777 9909, Fax +30 210 689 1366
E-Mail ganten@hol.gr

  

Article Information

Received: July 3, 2003
Accepted after revision: November 26, 2003
Published online: January 29, 2004
Number of Print Pages : 6
Number of Figures : 3, Number of Tables : 2, Number of References : 37

  

Publication Details

Hormone Research (International Journal of Experimental and Clinical Endocrinology)
Founded 1970 as ‘Hormones’ by M. Marois, Continued 1976 by J. Girard (1976–1995)
Official Organ of the European Society for Paediatric Endocrinology

Vol. 61, No. 5, Year 2004 (Cover Date: Released April 2004)

Journal Editor: M.B. Ranke, Tübingen
ISSN: 0301–0163 (print), 1423–0046 (Online)

For additional information: http://www.karger.com/journals/hre


Article / Publication Details

First-Page Preview
Abstract of Case Report

Received: 7/3/2003
Accepted: 11/26/2003
Published online: 4/23/2004
Issue release date: April 2004

Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 2

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP


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