Turner Syndrome

📖 Overview

Turner Syndrome affects females who are born with one complete X chromosome and one missing or structurally altered X chromosome (45,X or a mosaic variant). It occurs in approximately 1 in 2,500 female births.

Turner Syndrome affects growth (short stature without growth hormone treatment), puberty (ovarian insufficiency means most females with Turner Syndrome do not experience spontaneous puberty and are infertile without donor egg IVF), and cardiac development (bicuspid aortic valve and aortic coarctation are common).

Growth hormone treatment from early childhood significantly improves final adult height. Oestrogen replacement therapy is initiated at the expected age of puberty and continues through adulthood. Cardiac imaging is lifelong — aortic dilation is a serious risk.

The cognitive profile in Turner Syndrome is specific. Most females have intelligence in the typical range, but visual-spatial abilities, maths, and executive function are commonly more affected than verbal abilities. Attention difficulties, social cognition differences, and anxiety are more prevalent.

Diagnosis is sometimes made prenatally, in infancy, or in childhood when short stature or delayed puberty prompts investigation. A significant proportion of women are not diagnosed until adulthood when they present with infertility.

The psychological impact of Turner Syndrome — particularly around puberty, fertility, and identity — requires sensitive and ongoing support. Many women with Turner Syndrome report that the hardest aspect is not the physical features but the infertility and the feeling of being different during adolescence.