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.
