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Turner syndrome: symptoms, types, causes and treatment

Turner syndrome: symptoms, types, causes and treatment

May 29, 2024

Monosomies are a type of chromosomal alteration in which some or all of the cells of the organism contain a single pair of chromosomes that should be duplicated. One of the few human monosomies compatible with life is Turner syndrome, in which the defect occurs in the female sex chromosome.

In this article we will describe Symptoms and causes of the main types of Turner syndrome , as well as the therapeutic options that are used routinely in these cases.

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What is Turner syndrome?

Turner syndrome is a genetic disorder that appears as a result of random alterations in the X chromosome . It does not usually affect intelligence, so people with this disorder usually have a normal IQ.

It is related to the presence of a single X chromosome in cases where there should be two, so that Turner syndrome is diagnosed almost exclusively in girls, although there is a subtype that appears in males. It occurs in approximately 1 in every 2 thousand female births.

This alteration affects physical development, especially because of its inhibitory effects in sexual maturation : Only 10% of girls with Turner syndrome show some signs that they have reached puberty, while only 1% have babies without medical intervention.

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Symptoms and main signs

Girls and women with this disorder have two characteristic features that represent the core of the diagnosis: his height is lower than normal and his ovaries are not fully developed , so they present amenorrhea or menstrual irregularity and can not get pregnant.

Because the basic signs of Turner syndrome are related to biological maturation and sexual development, it is not possible to definitively identify the presence of this disorder at least until puberty, a period in which these signs begin to clearly manifest.

The rest of the usual symptoms of Turner syndrome vary depending on the case. Some of the most common are the following:

  • Morphological abnormalities in the face, eyes, ears, neck, extremities and chest
  • Inflammation due to fluid accumulation (lymphedema), frequently in the hands, feet and nape of the neck
  • Visual and auditory problems
  • Delays in growth
  • Puberty does not complete spontaneously
  • Infertility
  • Short stature
  • Cardiac, renal and digestive disorders
  • Deficits in social interaction
  • Learning difficulties, especially in mathematical and spatial tasks
  • Hypothyroidism
  • Scoliosis (abnormal curvature of the spine)
  • Increased risk of diabetes and heart attacks
  • Hyperactivity and attention deficit

Types and causes of this disease

Turner syndrome is due to the absence of one of the two sex chromosomes X in people of female biological sex, although occasionally it also appears in males who have an incomplete Y chromosome and therefore develop as women.

Three types of Turner syndrome have been described depending on the specific genetic causes of the symptoms. These chromosomal alterations occur at fertilization or during the initial stage of intrauterine development.

1. By monosomy

In the classic variant of this syndrome the second X chromosome is totally absent in all the cells of the body; because of defects in the egg or sperm , the successive divisions of the zygote reproduce this basic anomaly.

2. With mosaicism

In Turner syndrome of mosaic type it is possible to find an additional X chromosome in most cells, but this is not completely complete or has some defect.

This subtype of the syndrome develops as consequence of an altered cell division from a certain point of early embryonic development: the cells that arise from the defective lineage do not have the second X chromosome, while the rest do.

3. With incomplete Y chromosome

In some cases, individuals who are male from a genetic point of view do not develop normatively because the Y chromosome is absent or has defects in part of the cells, so that their appearance is feminine and may also have the symptoms that we have described. It is a rare variant of Turner syndrome.


Although Turner syndrome can not be "cured" because it consists of genetic variation, there are different methods that can be solve or at least minimize the main symptoms and signs .

Morphological alterations and other similar associated defects tend to be difficult to modify, although this depends on the specific alteration. Depending on the case, it may be necessary the intervention of specialists such as cardiologists, endocrinologists, otolaryngologists, ophthalmologists, speech therapists or surgeons, among others.

In cases where this disorder is detected early, therapy by injection of growth hormones favors the achievement of a normal height in adulthood. Sometimes they are combined with low doses of androgens to enhance the effects of this treatment.

Very often Substitutive hormone therapies are applied to girls with Turner syndrome when they reach puberty to promote their biological maturation (eg to favor the onset of menstruation). The treatment is usually started with estrogen and later progesterone is administered.

What is Turner Syndrome? Animated Explanation Video (May 2024).

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