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

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