Turner Syndrome

Objectives

After completing this article, readers should be able to:

1. Describe the features of the Turner syndrome (TS) phenotype in the newborn.

2. Discuss the cardiac and renal complications associated with TS.

3. Know what a definitive diagnosis of TS requires.

4. Recognize that growth retardation may be the only clinical manifestation of TS.

5. Know that TS can present for the first time as pubertal delay.

Introduction

Approximately 1 in 2,500 live female births is affected by Turner syndrome (TS), making it one of the more common genetic conditions encountered in pediatric practice. TS is caused by deletion of all (monosomy) or part (partial monosomy) of the second sex chromosome. Multiple body systems can be affected to varying degrees, presenting both diagnostic and management challenges for the pediatrician. In recent years, knowledge and understanding of TS have advanced substantially. Both the American Academy of Pediatrics and the Turner Syndrome Study Group recently published guidelines for the care of girls and women who have TS. (1)(2) These determinations have relied both on peer-reviewed studies and the opinion of experts in the care of individuals who have TS. In this article, we review the multisystem manifestations of TS and the updated guidelines for care of the girls and women affected with this common chromosome abnormality.

Diagnosis

TS is both a clinical and cytogenetic diagnosis. For a girl or woman to be diagnosed with TS, she must be missing all or part of one copy of the second sex chromosome, as confirmed by a chromosome analysis. Furthermore, she must have phenotypic features consistent with the diagnosis, such as short stature and gonadal dysgenesis or insufficiency. All individuals who have TS have a female phenotype; males never should be given this diagnosis. Some patients have structural abnormalities of the X chromosome, such as deletions of a portion of …