Turner Syndrome

A genetic or chromosomal disorder affecting girls and women, where the reason is found to be the complete or partial missing of the X chromosome (sex chromosome). Turner syndrome can result in numerous medical issues in terms of females’ growth and development that majorly include short stature or height, heart defects, and undeveloped ovaries.

This defect can be diagnosed before the birth of a child (prenatally), or in early childhood or infancy, though females with the milder symptoms of the Turner syndrome are been diagnosed in their teenage or adulthood.

After the diagnosis, the females require regular checkups, proper medical attention from numerous specialists that can encourage them to live healthy, happy, and independent lives.


The symptoms of the Turner syndrome may vary among the girls and women, as for a few of them, the symptoms are mild so hardly noticeable while in other physical appearances are observable early. The symptoms may develop slowly with time but can be severe like heart defects.

Before birth

There are chances to suspect Turner syndrome prenatally or before the birth of a child, through the process of cell-free DNA screening. In this test, by using the mother’s blood sample, few chromosomal abnormalities can be detected, however, screening can be done by the prenatal ultrasound of a baby. The result of the ultrasound will display –

  • Heart abnormalities.
  • Abnormal kidneys.
  • Excess fluid collection on the backside of the neck, with additional abnormal fluid (edema).

During birth or infancy

The signs of the Turner syndrome at the time of birth include

  • Broad chest with broadly spaced nipples.
  • Toe and fingernails are narrow and turned upward.
  • Low-set ears.
  • Web-like or Broad neck.
  • Slow growth rate.
  • Heart defects.
  • Small toes and fingers.
  • Swelled or puffy feet and hands.
  • Small lower jaw.
  • The hairline at the back of the head is low.
  • Height issue since the time of the birth.

Symptoms seen with the growth of a child ( toddlers, adolescence).

The significant symptoms to be noticed with the girl having Turner syndrome are the

  • Short height or stature
  • Ovarian inadequacies due to ovarian failure.
  • Slow growth rate.
  • Irregular menstrual cycles, which end before the appropriate time.
  • Inability to conceive without medical support.
  • Undeveloped sexual changes during puberty.

Causes of the Turner Syndrome

Normal peoples have two sex chromosomes, where males have XY and females have XX. Males get their X chromosome from their mothers and the Y chromosome from their fathers. Whereas females have X chromosomes, where they obtain each one by their father and mother. However, in case of females with Turner syndrome, one of the copy of X chromosome is missing either partially or completely.

Following are the genetic alteration of Turner syndrome, where one of them can be the reason:

Monosomy: Due to the absence of one of the X chromosome which was not transferred from either father’s sperm or mother’s egg, makes the sex chromosome incomplete and resulting in the lack of the X chromosome in each cell of the developing body.

Mosaicism: In this case, the defects may occur during the cell division in the early stage of fetal development, where few cell will have complete sets of chromosomes, including sex chromosomes while some cells contain incomplete numbers of chromosomes especially lacking the sex chromosome ‘X’.

X chromosome changes: Altered or missing parts of the X chromosomes is present in the cell.

Y chromosome changes: In this case, some of the cells get the copy of the X chromosome, while other will have one copy of X chromosome with the Y chromosome material, which biologically develops the person as a female. Even the Y chromosome matter may increase the risk of gonadoblastoma ( a type of cancer).


Turner syndrome may also be responsible to cause many health issues in the body system, such as vision problems, kidney, heart problems, risk of high blood pressure, hearing inability, mental health illness, infertility, autoimmune disorders.

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