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
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