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Novel Insights from Clinical Practice

Tall Stature and Gonadal Dysgenesis in a Non-Mosaic Girl 45,X

Fernandez R. · Pasaro E.

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Department of Psychobiology, University of A Coruña, Campus Elviña, A Coruña, Spain

Related Articles for ""

Horm Res Paediatr 2010;73:210–214

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Article / Publication Details

First-Page Preview
Abstract of Novel Insights from Clinical Practice

Received: October 27, 2008
Accepted: April 07, 2009
Published online: March 03, 2010
Issue release date: March 2010

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 2

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

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

Abstract

Turner’s syndrome, also known as ‘monosomy X’, is a genetic disorder that occurs in 1/2,500 female births and is hypothesized to result from haploinsufficiency of certain genes expressed from both sex chromosomes that escape X inactivation. While the classic karyotype related to Turner’s syndrome is 45,X, the majority of those affected actually have a mosaic chromosomal complement, most often with a second normal cell line (46,XX). The resulting phenotype is variable and related to the underlying chromosomal pattern, but it is characterized by three cardinal features: short stature (around 100%), ovarian failure (>90%) and congenital lymphedema (>80%). In this paper we report a molecular and cytogenetic investigation of a 26-year-old female with non-mosaic 45,X karyotype, who has a stature of 170 cm without GH treatment, and whose only apparent Turner feature is gonadal dysgenesis. The only possible explanation for the absence of Turner phenotype is the hidden mosaicism combined with an untreated gonadal dysgenesis. Our results support the theory that significant ascertainment bias exists in our understanding of Turner’s syndrome.

© 2010 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Novel Insights from Clinical Practice

Received: October 27, 2008
Accepted: April 07, 2009
Published online: March 03, 2010
Issue release date: March 2010

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 2

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

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


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