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Management of Turner syndrome

Author
Philippe Backeljauw, MD
Section Editors
Peter J Snyder, MD
Mitchell E Geffner, MD
Deputy Editors
Kathryn A Martin, MD
Alison G Hoppin, MD

INTRODUCTION

Turner syndrome is an important cause of short stature in girls and primary amenorrhea in adolescents and young women and is caused by loss of part or all of an X chromosome [1].

This topic will review the treatment of patients with this disorder. Management varies with the age of the patient and includes therapy for the short stature and estrogen deficiency, as well as identifying and managing the associated congenital anomalies and related complications (table 1) [2]. The clinical manifestations and diagnosis of Turner syndrome are reviewed separately. (See "Clinical manifestations and diagnosis of Turner syndrome".)

PRENATAL MANAGEMENT

Cases of Turner syndrome are sometimes discovered incidentally during chorionic-villus sampling or amniocentesis performed for unrelated reasons, such as advanced maternal age or for suspicion about congenital anomalies noted on fetal ultrasonography. Ultrasonography may show increased nuchal translucency, which is a good marker for fetal chromosomal defects [3]. As an example, if a fetus with hydrops or a large cystic hygroma is found to have a 45,X karyotype, the diagnosis of Turner syndrome can be made with a high degree of certainty. The chance for spontaneous abortion will also be quite high.

The parents should receive detailed genetic counseling. Parents sometimes consider elective termination of the pregnancy, often prompted by their review of information that is available on the internet. However, prenatal counseling is challenging because it is difficult to predict the phenotype of girls with incidentally diagnosed Turner syndrome. Retrospective studies suggest that these girls, and particularly those with 45,X/46,XX mosaicism [4], may have a milder phenotype than those diagnosed on the basis of clinical suspicion [4,5], but more prospective studies confirming these results are necessary. It is important that some of the counseling be provided by health care professionals with direct experience caring for Turner syndrome patients throughout childhood and adolescence; these are often pediatric endocrinologists. Such clinicians are best suited to answer questions about available treatments and prognosis related to the Turner syndrome comorbidities. (See "Sonographic findings associated with fetal aneuploidy", section on 'Turner syndrome'.).

INFANTS AND CHILDREN

Disclosure of diagnosis — Many patients report that their Turner syndrome diagnosis or other important information was inappropriately withheld from them. In a study conducted in the United States, approximately one-third of patients with Turner syndrome reported that their families or health care providers had withheld all or part of the Turner syndrome diagnosis [6]. In addition, several patients were not informed of the infertility associated with the diagnosis. How the diagnosis is shared with the patients may result in a negative disclosure experience. We encourage helping parents disclose diagnostic and other health-related information in a timely, caring, and age-appropriate manner. This is of great importance to the overall mental and physical health of the patient.

                                     

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Literature review current through: Nov 2016. | This topic last updated: Mon Nov 28 00:00:00 GMT+00:00 2016.
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