Illuminating Turner Syndrome

February is Turner Syndrome Awareness Month, an opportunity to shine a light on this rare chromosomal disorder. Dr Nicola Davies outlines the physiology underlying Turner Syndrome (TS), current therapeutic options, and treatments on the horizon.

Two is better than one

Humans normally have 23 pairs of chromosomes, two of which define gender-specific traits; women have an XX pair and men an XY pair. However, approximately 1 in 2,000 females have either partial or complete absence of one X chromosome. This chromosomal anomaly is known as Turner Syndrome (TS) and was named after the endocrinologist Henry Turner who first described the condition in 1938.1