12th April 2024

Turner syndrome (45, XO)

Turner syndrome is a congenital condition caused by an absent or nonfunctioning sexual chromosome. The typical presentation involves short stature, a webbed neck and a shield chest (characterised as widely spaced nipples). Skeletal development is also affected, causing short 4th metacarpals/tarsals and Madelung deformities of the forearms and wrists. Patients are at increased risk of cardiovascular structural defects such as bicuspid aortic valve and coarctation of the aorta. Other complications associated with this syndrome include autoimmune diseases such as hypothyroidism, IBD, coeliacs and renal malformation such as horseshoe kidneys. Commonly, Turner syndrome is suspected in girls who have primary amenorrhoea, delayed/no puberty stage of growth and normal intelligence.

Investigations

Prenatal investigations include chorionic villus sampling or amniocentesis. Further karyotyping is performed to confirm the diagnosis.

Management

Hormone replacement therapy (GH and oestrogen) is often started at the time of puberty to encourage growth and minimise symptoms through increasing androgen levels.