Turner Syndrome

Turner syndrome is due to the deficiency of all or part of one X chromosome in females (45,X).

Epidemiology

• Incidence: 1/2500 live female births
• Sporadic

Clinical presentation

Turner syndrome has a very variable phenotype and presents with diverse clinical features in different age groups:

• Pre-natal
• Miscarriage
• Increased nuchal translucency
• Hydrops fetalis
• Newborn
• Oedema of hands and feet
• Congenital heart defect
• Childhood
• Short stature
• Teenage
• Primary amenorrhoea
• Adulthood
• Infertility

Physical Signs

• Webbed neck
• Low hairline
• Wide-spaced nipples
• Oedema of hands and feet, especially in infancy
• Short 4th and 5th metacarpals
• Evidence of congenital heart disease: heart murmur, delayed femoral pulses, hypertension
• Short stature

Complications

• Recurrent otitis media (60%)
• Congenital heart defect (15-50%): coarctation of the aorta, VSD.
• Renal anomalies (30%): horseshoe kidney, agenesis
• Autoimmune disease: hypothyroidism, diabetes mellitus
• Primary amenorrhoea, gonadal dysgenesis
• Infertility
• Osteoporosis (secondary to decreased oestrogen)
• Intelligence is usually within normal range
• Life expectancy is reduced due to obesity, ischaemic heart disease and aortic dissection.