A girl or woman with Turner Syndrome may show certain phenotypic features. Recognition of these findings should prompt chromosomal studies to identify the change in the X chromosomes. This can aid in early diagnosis and intervention.


The most common findings which prompt a further investigation:

(1) short stature

(2) puffy hands and/or feet (associated with lymphedema)

(3) absent, delayed or arrested puberty

(4) congenital heart disease

(5) renal anomaly

(6) webbed neck (seen in only about 20% of patients)

(7) infertility


While some patients are recognized at birth or during infancy, a significant percent are not delayed until late adolescence.


The absence of Barr bodies (43.61.02) may be a simple screening test (although absence of the Barr bodies needs to be confirmed by cytogenetic studies).


To read more or access our algorithms and calculators, please log in or register.