Turner syndrome: Diagnosis in outpatient-clinic

Abstract

Background: Turner syndrome (TS) is one of the most common female chromosomal abnormalities. The phenotypes vary and diagnosis can be made at all ages. The challenge for physician is to early recognition and diagnosis which leads to timely and properly initiation of therapy with multidisciplinary care teams.
Objectives: To present a patient with short stature and Turner syndrome was diagnosis by a general pediatrician at the Out Patient Department (OPD) setting and to review clinical  characteristics of the disease and management.
Case report: An 11-year-old girl presented at OPD with shortstature and history of ADHD treated by a psychiatrist since 8 years old. She had epicanthal fold, low posterior hair-line, shield chest, widely spaced nipples and delayed puberty. Based on clinical characteristics, a diagnosis of Turner syndrome was made. The chromosome analyses revealed 45, X and echocardiogram identified Bicuspid aortic valve. The comprehensive care was made and planned with the patient and her family.
Conclusion: Early diagnosis of Turner syndrome expands patient’s opportunities to access standardized treatment options resulting in better quality of live. Pediatricians play an importantrole in providing knowledge and enhancing awareness ofTurnersyndrome among physicians and parents.