Turner’s Syndrome

Background

• Affects around 1 in 2500 females
• Classically 45X0 karyotype

Features

• Newborn
  • Borderline/small for dates
  • Lymphoedema (hands and feet)
  • Excessive skin at the nape of the neck
  • Congenital heart defects (coarctation of aorta; aortic stenosis/bicuspid aortic valve)
• Infancy
  • Short stature (often presenting features)
  • May have problems feeding and poor weight gain; poor sleeping
  • Low set ears
  • Wide set nipples
• Preschool
  • Short stature
  • High activity levels
  • Behavioural problems with exaggerated fearfulness
  • Recurrent middle ear infections (with effusion and conductive hearing loss); sensorineural deafness
• Older children
  • Short stature
  • Gonadal dysgenesis
  • Middle ear disease
  • Obesity
  • learning difficulties; social vulnerability
  • renal abnormalities (horseshoe kidneys)
• Adolescence
  • Impaired pubertal growth spurt
  • Ovarian failure (absent/incomplete puberty)
  • Obesity
  • Hypertension
  • Autoimmune diseases (autoimmune thyroiditis; coeliac disease; IBD)
• Adults
  • Osteoporosis

Investigation

• Karyotyping will provide a diagnosis for 46X0 individuals (FISH may be required for mosaicism)

Management

• Short stature may respond during adolescence with high dose GH treatment
• Oestrogen therapy can help pubertal development
  • Not recommended for individuals with mosaicism Turner’s
  • Also causes fusion of the epiphyses so should be timed carefully with GH treatment