What is Turners Syndrome (Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X)

Turners Syndrome is the complete or partial chromosomal abnormality consisting of the absence of the X chromosome.

Statistics on Turners Syndrome (Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X)

Frequency is approximately 1 in 2,000 live-born female infants. As many as 15% of spontaneous abortions have a 45 X karyotype.

Risk Factors for Turners Syndrome (Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X)

This disease is of a genetic nature. It is linked to the sex chromosomes.

Progression of Turners Syndrome (Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X)

Those with Turner’s Syndrome are missing or have a damaged X chromosome. They are typically short, achieving an average adult height of only 4″7″ and can have a variety of associated physical features and medical problems. Because they do not have proper ovarian development, they may fail to develop secondary sexual characteristics during adolescence and may be infertile as adults.

How is Turners Syndrome (Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X) Diagnosed?

During a physical examination, look for signs of:

 

  • Underdeveloped breasts and genitalia
  • Webbed neck
  • Short stature
  • Low hairline in back
  • Simian crease (a single crease in the palm)
  • Abnormal development of the chest

 

Infants with Turner syndrome often have swelling of the hands and feet, probably reflecting changes in drainage in the lymphatic system.

 

  • Karyotyping shows 45 chromosomes with a pattern 45 X,0 (i.e., a missing sex chromosome).
  • Ultrasound may reveal small or underdeveloped female reproductive organs.
  • A kidney ultrasound can evaluate kidney abnormalities.
  • A gynecologic exam may reveal dry vaginal lining.
  • Serum luteinizing hormone is elevated.
  • Serum follicle stimulating hormone is elevated.
  • Echocardiogram (heart ultrasound) and MRI of the chest are frequently performed after the diagnosis is made to evaluate possible cardiac defects.

 

This disease may also alter the results of the following tests:

  • estriol – urine
  • estriol – serum
  • estradiol

 

Prognosis of Turners Syndrome (Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X)

Those affected require special medical surveillance throughout life. Although infertility cannot be altered, pregnancy may be possible through in vitro fertilization.

How is Turners Syndrome (Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X) Treated?

Studies indicate that much of the growth deficit in children with Turner’s Syndrome can be restored by injections of human growth hormone before growth is completed. Orally-administered replacement sex hormones at the appropriate age will promote pubertal development. Although infertility cannot be altered, pregnancy may be possible through in vitro fertilization.

Replacement with thyroid hormone is important for growth and health in patients who need it.

Turners Syndrome (Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X) References

[1]Cotran, R.S., Kumar, V., Collins, T. Robbins Pathologic Basis of Disease 6th ed. W.B. Saunders 1999.
[2] Kumar P, Clark M. CLINICAL MEDICINE. WB Saunders 2002.
[3] Robbins, S.L., Cotran, R.S., Kumar, V. Robbins Pathologic Basis of Disease 5th ed. W.B. Saunders 1995.
[4] Turners Syndrome as retrieved from www.endo-society.org on the 11/12/2003