Turner’s syndrome

Written by Dr.Md.Redwanul Huq (Masum)
Tuesday, 22 January 2013 08:24

Turner’s syndrome is associated with a 45XO karyotype.

Clinical features of Turner’s syndrome:

  • Short stature
  • Short, webbed neck
  • Coarctation of the aorta
  • Streak gonads
  • Hypertension
  • Mouth is small and fish like
  • High arched palate
  • Shield like chest
  • Increased carrying angles
  • Primary amenorrhoea
  • Lymphoedema of hands and foot
  • Infertility

Investigations for Turner’s syndrome:

1. Karyotype analysis from buccal smear – 45 (XO) is detcted
2. Hormonal assay shows-
i) Increased level of LH and FSH
ii) Decreased level of oestrogen
3. USG of abdomen shows in turner’s syndrome
i) Small uterus and fallopian tube
ii) Streak gonads.

Treatment for Turner’s syndrome:

1. Oestrogen therapy for induction of pubertal development
2. Long term oestrogen replacement therapy for adults
3. Gonadectomy (prophylactic) for patients with 45XO or 45XY mosaicism.

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