Turner syndrome with gonadal dysgenesis and tall stature - A case report

Turner syndrome is characterized by the presence of I normal X chromosome and the complete or partial loss of the second X chromosome. Endocrine and genetic analysis in a 22-year-old female with primary amenorrhea and tall stature were performed. Because primary gonadal dysgenesis, and 46,X,idic(X)(Xpter-q 13.2::q13.2-pter) and 45,X chromosome pattern were observed, she was diagnosed as having Turner syndrome. We speculate that cause of the tall stature in this patient is a triple dosage of short arms (Xp) containing the short stature homeobox- containing gene, and estrogen deficiency.