Turner syndrome

Turner syndrome is a disease that affects only girls and women and is caused by the complete or partial absence of one sex X chromosome.

The clinical condition can cause a number of clinically significant and growth problems, which usually consist of: short stature, failure of the girl to enter puberty, infertility, cardiac malformations, cognitive impairment, and difficulties with social adjustment.

The disease can be diagnosed before birth /prenatally/, during early or later childhood.

Sometimes the diagnosis is made later, as some girls show very mild clinical symptoms during adolescence or early adulthood.

What are the symptoms?

Clinical manifestations of the syndrome may vary significantly.

Before birth

Prenatal ultrasound of a fetus with the disease may show:

• A large collection of fluid at the back of the neck or other abnormal accumulations of fluid on the body of the fetus;
• Heart malformations;
• Abnormal kidneys;

At birth or during early childhood

In some girls, there are a number of features characteristic of the disease in the physique, such as a delay in growth in height.

Clinical manifestations of the syndrome at birth and in infancy may consist of:

• Wide or excessively bulging neck;
• Displaced or too small lower jaw;
• High and narrow arch of the oral cavity /palate/;
• Low set ears;
• The hairline is located at a lower level than usual at the back of the head;
• Broad breasts such that their nipples are located on the sides and are too far apart from each other;
• Short fingers on hands and feet;
• Elbows of hands turned to the side;
• Fingernails and toenails narrow and turned up;
• Swelling of limbs, especially at birth;
• Slightly shorter height at birth;
• Slowed growth rates;

In older girls, teenage girls and young women

In some girls, the disease may not be obvious.

The characteristic manifestations of the syndrome in women of these age groups are:

• The expected accelerated growth in height and weight during later childhood is not observed;

• Short stature, in adult women the height is 20 cm less than that of the other healthy women in the family.

• Cognitive disorders – especially in the perception of information that involves the use of spatial concepts and mathematical models, although the IQ is usually normal;

• Difficulties with orientation in a social environment such as problems with awareness and perception of other people’s emotions and reactions.

• The formation of the secondary sex marks expected at puberty never begins due to ovarian failure, which may be congenital or may have occurred gradually during childhood, adolescence and young adulthood.

• Early cessation of menstruation, not due to the onset of pregnancy;

• Sexual development during the teenage years is too sluggish;

• Most women with this disease have difficulty conceiving without the use of infertility treatment therapy;

Treatment of Turner syndrome

The main method of treatment used in all girls and women, hormone replacement therapy with:

• Growth hormone – most affected girls receive this therapy. With its help, an increase in height is achieved as much as possible during childhood and adolescent years. If the height is too short, some doctors also prescribe an androgen called oxandrolone as a complementary therapy to that of somatotropin;

• Estrogen therapy – ensures that the girl enters puberty and achieves the sexual development of a normal mature woman.