PEDIATRICS Vol. 96 No. 6 December 1995, pp. 1166-1173
This Article
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation

Health Supervision for Children With Turner Syndrome

Committee on Genetics

This set of guidelines is designed to assist the pediatrician in caring for the child in whom the diagnosis of Turner syndrome has been confirmed by karyotype. Although the pediatrician's first contact with the child is usually during infancy, occasionally the pregnant woman who has been given the prenatal diagnosis of Turner syndrome will be referred for advice. Therefore, these guidelines offer advice for this situation as well.

Turner syndrome, as used here, refers to a condition in which there is short stature and ovarian dysgenesis in females because of the absence of a normal second sex chromosome. Nonchrornosomal gonadal dysgenesis is excluded. The birth prevalence of Turner syndrome has been estimated to be from 1:2000 to 1:5000 female live births. About 1% to 2% of all conceptuses have a 45,X chromosome constitution. Of these, the majority (99%) spontaneously abort, usually during the first trimester of pregnancy. With the more frequent use of ultrasound, it is recognized that some pregnancies with a fetal 45,X chromosome constitution progressing into the second trimester are associated with nuchal cysts, severe lymphedema, or hydrops fetalis. These pregnancies are associated with a high frequency of fetal death.

PHENOTYPE

Pediatricians are most familiar with the clinical findings that prompt the diagnosis in children, namely, short stature and the classic Turner syndrome features such as lymphederna, webbed neck, low posterior hair line, and cubitus valgus. A wide range of clinical abnormalities may be found (Table 1). Turner syndrome, however, is not always accompanied by distinctive features and most often is not diagnosed in infancy.


The following policy statement is a revision:

Health Supervision for Children With Turner Syndrome
, , , and
Pediatrics 111: 692-702. [Full Text]



This article has been cited by other articles:


Home page
 PediatricsHome page
A. E. Lin, B. Lippe, and R. G. Rosenfeld
Further Delineation of Aortic Dilation, Dissection, and Rupture in Patients With Turner Syndrome
Pediatrics, July 1, 1998; 102(1): 12e - 12.
[Abstract] [Full Text]

Home page
 PediatricsHome page
V. P. Sybert
Cardiovascular Malformations and Complications in Turner Syndrome
Pediatrics, January 1, 1998; 101 (1): e11 - e11.
[Abstract] [Full Text] [PDF]

Home page
 NEJMHome page
T. J. Gargan, J. M. Peerzada, A. A. Rozycki, R. E. Nordgren, S. P. Taback, C. Deal, G. Van Vliet, and P. Saenger
Turner's Syndrome
N. Engl. J. Med., May 22, 1997; 336(21): 1526 - 1528.
[Full Text]

Home page
 PediatricsHome page
C. Roge, M. Cooper, H. Tarnoff;, M. D. Freed, D. S. Moodie, D. J. Driscoll, J. T. Bricker;, P. D. Rappo;, J. A. Noonan;, F. Desposito, et al.
Health Supervision for Children With Turner Syndrome
Pediatrics, January 1, 1997; 99(1): 145 - 146.
[Full Text]