• Only affects girls
• Turner syndrome occurs when a female has a single X chromosome, making them 45 XO. The O referrs to an empty space where the other X chromosome should be. Life expectancy is close to normal.
• FSH levels are elavated due to the lack of negative feedback from the decreased oestrogen production from the ovaries

Clinical features

• Short stature - most common feature of turners
• Webbed and wide neck
• High arching palate
• Downward sloping eyes with ptosis
• Broad chest with widely spaced nipples
• Cubitus valgus
• Underdeveloped ovaries with reduced function
• Late or incomplete puberty
• Most women are infertile
• Spoon shaped hyper convex nails are commonly seen due to lymphoedema

The three classic features to remember and look out for in exams are short stature, webbed neck and widely spaced nipples.

Complications

Endocrine:

• Gonadal dysgenesis