Turner syndrome
Genetics: Karyotype shows 45XO, caused by Ovarian disjunction and sometimes mosaicism
Pregnancy outcomes:
– Majority (99%) are miscarried
– 15% of first trimester miscarriages are due to 45XO
– Only condition where some monosomic conceptus survives
Antenatal scan in 2nd trimester:
– Hydrops
– Nuchal thickening
Newborn features:
– Oedematous hands/ feet
– Webbed neck
– Low posterior hairline
– Widely spaced nipples
Features in childhood:
– Lymphoedema persists few years
– Growth failure from 3-5y age
– Lack of pubertal onset
– Hearing issues
– Eyes- ptosis / squint
– Normal cognition
– Possible specific learning difficulties
Clinical monitoring:
– Height, Weight
– Pubertal development
– Blood Pressure annually
– TSH annually
– Renal tract USS at diagnosis
– ECHO after diagnosis & every 5 – 10 years due to risk of Coarctation of Aorta
– Fasting Glucose, Lipids, HbA1c at adolescence & if obese
– Opthal assessment in young chid