What Are the Characteristics of a Child With Turner's Syndrome?

Medically Reviewed on 12/16/2022
Characteristics of Turner's Syndrome
Turner’s syndrome has no cure; however, many of the most significant issues can be managed.

Turner’s syndrome only affects female children.

The most common characteristic features of a female child with Turner’s syndrome are:

  • Short stature
  • Ovarian insufficiency
  • Malformations in organ systems, such as:
    • Cardiac defects (particularly coarctation of the aorta and bicuspid aortic valve)
    • Lymphedema (especially nuchal and over the dorsum of the hands and feet)
    • Short fourth metacarpals and genitourinary malformations (such as horseshoe kidney)

What are the symptoms of Turner's syndrome?

Others may have life-threatening cardiovascular, hormonal, and lymphatic abnormalities. Symptoms, such as low height, pubertal delay, and sterility, impose a considerable psycho-emotional load and increase their risk of developing comorbidities. A variety of skin problems are usually seen in individuals with Turner’s syndrome.

Other symptoms of Turner’s syndrome include:

  • Reduced growth spurts during childhood and adolescence, leading to short adult height
  • Delayed puberty (leads to issues with sexual development)
  • A flat or broad chest
  • Webbing of skin in the neck
  • Shorter fingers or toes
  • Swollen or puffy hands and feet, particularly at birth
  • A low hairline at the back of the head
  • Unusual eye features, including drooping of the eyelids
  • Altered bone development, especially the bones of the hands and elbows
  • Excess moles on the skin
  • Lack of secondary sexual characteristics, such as breast development
  • Not experiencing puberty and menstruation
  • Cessation of functions of ovaries or they do not work at all
  • High blood pressure
  • Insufficient estrogen (female sex hormone) production
  • Fertility issues or infertility
  • Cardiac issues
  • Osteoporosis (weak and brittle bones)
  • Thyroid issues
  • Eye issues, such as drooping eyelids
  • Scoliosis (the spine curves sideways)
  • Eye issues, such as drooping eyelids

What is Turner's syndrome?

Turner’s syndrome is a chromosomal condition characterized by a full or partial deletion of the second sex-determining chromosome. Some of those affected are phenotypically normal female children with small heights.

Most female persons with Turner's Syndrome do not have normal pubertal development or spontaneous menstrual cycles. They cannot acquire secondary sexual characteristics in adolescence and reproduce. Many of the other symptoms are caused by lymphedema. Female adolescents with primary amenorrhea and young female persons with early ovarian failure have mosaic types of gonadal dysgenesis (a developmental disorder of sex organs).

However, it is expected that three to eight percent of individuals with 45X karyotype and 12 to 21 percent of individuals with sex chromosomal mosaicism would have normal pubertal development and spontaneous menstrual cycles. Pregnancies have occurred in individuals with karyotypes 45X and 45 and X/46XX.

Turner’s syndrome affects 1 in every 2000 to 2500 live female births globally. A study found that 66 percent of pregnancies affected by Turner’s syndrome terminated in spontaneous miscarriage.

How is Turner’s syndrome diagnosed?

Turner’s syndrome can be detected during pregnancy using chorionic villi sampling done between 11 to 14 weeks of gestation and amniocentesis after 14 weeks of gestation. Abnormal ultrasound results can sometimes identify fetuses with Turner’s syndrome (heart defect, kidney abnormality, cystic hygroma, or ascites).

Newborns can undergo a simple blood test called a karyotype after delivery, which is the gold standard test. This test uses a blood sample and typically has a two-week turnaround time for results. This test looks for the absence of all or a portion of one X chromosome.

A female person with short stature, unexpected primary or secondary amenorrhea, and lymphedema should be evaluated for gonadal dysgenesis.

How is Turner’s syndrome treated?

Turner’s syndrome has no cure. However, many of the most significant issues could be managed. Growth hormone can be administered to enhance height, and hormone replacement therapy can be used in adolescent females to induce puberty.

  • Estrogen is administered for the first 25 days of each calendar month.
  • Withdrawal bleeding occurs three to five days after stopping estrogen medication. 
  • Oral progestational drugs should be used from the 15th to the 25th of each month to promote breast growth, cause endometrial gland coiling and boost stromal vascularity.

A female person with Turner's syndrome is at a greater risk of developing neoplasms that grow from the rudimentary streak gonads, such as gonadoblastoma and dysgerminoma if they are on long-term exogenous female hormone treatment.

Medically Reviewed on 12/16/2022
Image Source: iStock image

Turner Syndrome (Monosomy X) in Children. https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=p02421

Turner Syndrome. https://www.webmd.com/children/what-is-turner-syndrome

Turner Syndrome. https://kidshealth.org/en/parents/turner.html