Turner syndrome (TS) is often initially suspected by parents who notice specific symptoms in their daughters. While some signs may be evident at birth, others might emerge during early childhood. Parents may observe symptoms such as swelling in the hands or feet, a webbed neck, short stature, growth delays, absence of breast development, and primary amenorrhea (lack of menstruation).

A definitive diagnosis of Turner syndrome is established through a genetic test called karyotype analysis. This test, performed using a blood sample, determines whether one of the X chromosomes is completely or partially missing.