Turner Syndrome

Turner Syndrome is a chromosomal disorder that affects only females, resulting from the complete or partial absence of one of the two X chromosomes (45,X karyotype), or the presence of abnormal X chromosomes. It is a relatively rare condition, occurring in 1 out of every 2,500 to 3,000 live female births. Clinical features vary, but typical characteristics include short stature, delayed puberty, infertility due to gonadal dysgenesis (underdeveloped ovaries), and congenital heart defects.

Diagnosis is typically confirmed by karyotype analysis, which reveals the chromosomal abnormalities. Management of Turner Syndrome is multidisciplinary, involving growth hormone therapy to address short stature, estrogen replacement for pubertal development and maintenance of secondary sexual characteristics, and careful monitoring for associated health issues such as cardiovascular problems, kidney abnormalities, and hearing loss. Early diagnosis and appropriate interventions can significantly improve the quality of life and outcomes for individuals with Turner Syndrome.