Skip to toolbar

Turner Syndrome (gonadal dysgenesis)

Turner Syndrome 45,X

Turner syndrome (gonadal dysgenesis – 45,X) is a condition in which a female is partly or completely missing an X chromosome.

Signs and symptoms

Girl with Turner syndrome before and immediately after her operation for neck-webbing – Wikipedia Image

  • Short stature
  • Lymphedema of the hands and feet of a newborn
  • Broad chest and widely spaced nipples
  • Protruding ears (low set ears)
  • Low Posterior hairline
  • Reproductive sterility
  • Rudimentary ovaries gonadal streak (underdeveloped gonadal structures that later become fibrotic)
  • Amenorrhoea
  • Increased weight, obesity
  • Shortened metacarpal IV
  • Small fingernails
  • Characteristic facial features
  • Webbed neck
  • Aortic valve stenosis
  • Coarctation of the aorta
  • Bicuspid aortic valve
  • Horseshoe kidney
  • Nonverbal learning disability (problems with math, social skills, and spatial relations)

Points

  • Turner’s syndrome is not typically associated with central nervous system malformations or intellectual disability, although they may have some mild learning disabilities. Intellectual disability (Mental retardation) is seen in 6% of affected children.
  • Cystic hygroma is very common

Dx

  • Echocardiogram (Congenital heart disease)
  • Renal ultrasonography (Renal anomalies – Horshoe Kidney)
  • Chromosome analysis – A karyotype test will reveal chromosome profile to be 45,XO

Tx

  • Growth hormone therapy – for short stature
  • Estrogen – induce secondary sexual characteristics

Related Articles

Klinefelter syndrome

Klinefelter syndrome also known as 47,XXY or XXY, is the set of symptoms that result from two or more Malcolm Gin (photographer) https://commons.wikimedia.org/wiki/File:Bodymorphproj_mkg_modA001_20070325_pos03.jpg X chromosomes in males. Apart…

Responses