Late Diagnosis of Turner Syndrome – Rare Genetic Disease : A Case Report

Abstract

Turner syndrome (TS) is a rare genetic disease that occurs only in girls and is the result of the complete or partial absence of the X chromosome. TS has often delayed diagnosis in late childhood or adolescent age and is rarely identified during the neonatal period. The clinical features are primary amenorrhea, short stature, infertility, and characteristic dysmorphic features. Late diagnosis is the main problem because early detection and appropriate management can improve the final height, sexual health and psychological development of patients. We report a case of turner syndrome in a 16-years and 4-months old female adolescent. The patient had specific clinical features of turner syndrome such as amenorrhea, absence of secondary sex growth and posture short stature since 14 years old. This case was confirmed from anamnesis, physical examination and chromosomal analysis, which demonstrated a gene karyotype of 45, X monosomy.