Turner Syndrome (gonadal dysgenesis)

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