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Clinical manifestations and diagnosis of Turner syndrome

Author
Philippe Backeljauw, MD
Section Editors
Peter J Snyder, MD
Helen V Firth, DM, FRCP, DCH
Mitchell E Geffner, MD
Deputy Editors
Kathryn A Martin, MD
Alison G Hoppin, MD

INTRODUCTION

Turner syndrome is one of the most common chromosome anomalies in humans and represents an important cause of short stature and ovarian insufficiency in females. It is caused by loss of part or all of an X chromosome.

The clinical manifestations and diagnosis of Turner syndrome will be reviewed below. Management of Turner syndrome is discussed separately. (See "Management of Turner syndrome".)

INCIDENCE AND PREVALENCE

Turner syndrome was first reported as a clinical syndrome (prior to the availability of karyotyping) in seven women with short stature, sexual immaturity, neck webbing, and cubitus valgus in a paper published in 1938 by Henri Turner, an Oklahoma physician [1]. However, Otto Ulrich had already described an eight-year-old girl with a similar phenotype several years earlier [2].

Turner syndrome is one of the most common sex chromosome abnormalities in females, and occurs in approximately 1 in 2000 to 1 in 2500 live female births, based on epidemiological and newborn genetic screening data from Europe, Japan, and the United States [3-5]. The true prevalence of Turner syndrome remains difficult to ascertain because patients with a mild phenotype may remain undiagnosed, and some patients are not diagnosed until adulthood if the phenotype is mild [6].

Turner syndrome occurs with more or less the same prevalence in all ethnic groups and in different countries. However, the prevalence at birth may be declining in some countries. This may be related to the increased use of ultrasonographic screening prenatally and the fact that some mothers carrying fetuses with Turner syndrome choose to terminate the pregnancy [7,8]. On the other hand, most gestations (likely more than 99 percent) affected by X chromosome monosomy (45,X) do not survive to birth, and the 45,X genotype is found in at least 10 percent of spontaneous abortions [9-13].

                                  

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Literature review current through: Nov 2016. | This topic last updated: Mon Oct 03 00:00:00 GMT+00:00 2016.
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