Turner syndrome: symptoms, types, causes and treatment

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

In this article we will describe symptoms and causes of the main types of Turner syndrome, As well as the treatment options commonly used in these cases.

    What is Turner Syndrome?

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

    It is linked to the presence of a single X chromosome in cases where there should be two, so Turner syndrome is diagnosed almost exclusively in girls, although there is one subtype that appears in girls. men. It occurs in about 1 in 2,000 female births.

    This disorder affects physical development, especially due to their inhibitory effects on sexual maturation: Only 10% of girls with Turner syndrome show signs of having reached puberty, while only 1% have babies without medical intervention.

      Main symptoms and signs

      Girls and women with this disorder have two characteristics that are central to the diagnosis: their height is lower than normal and their ovaries are not fully developedSo they have amenorrhea or menstrual irregularities and cannot get pregnant.

      Because the underlying 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, during which time these signs are starting to show up clearly.

      Other common symptoms of Turner syndrome vary from case to case. Some of the most common are:

      • Morphological abnormalities of the face, eyes, ears, neck, limbs and chest
      • Inflammation due to a build-up of fluid (lymphedema), commonly in the hands, feet and neck
      • Visual and hearing problems
      • Growth retardation
      • Puberty does not complete spontaneously
      • infertility
      • small size
      • Heart, kidney 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 caused by the absence of one of the two X sex chromosomes in people of the biological female sex, although it sometimes also occurs in men who have an incomplete I chromosome and therefore develop as one. than women.

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

      1. By monosomy

      In the classic variant of this syndrome, the second X chromosome is completely absent in all cells of the body; due to defects in the egg or sperm, Successive divisions of the zygote reproduce this fundamental anomaly.

      2. With mosaicism

      In mosaic-like Turner syndrome, it is possible to find an extra X chromosome in most cells, but it is not entirely complete or has defects.

      This syndrome subtype develops as consequence of impaired cell division from a given point of early embryonic development: cells from the defective line do not have the second X chromosome, while the others do.

      3. With incomplete chromosome I

      In some cases, genetically male individuals do not develop in a normative fashion because chromosome I is missing or has defects in some part of the cells, so their appearance is feminine and they may exhibit more of the symptoms that we have. described. It is a rare variant of Turner syndrome.

      treatment

      Although Turner syndrome cannot be “cured” because it consists of a genetic variation, there are different methods that can be used. resolve or at least minimize the main symptoms and signs.

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

      In cases where this disorder is detected early, growth hormone injection therapy promotes the attainment of normal height in adulthood. They are sometimes combined with low doses of androgens in order to potentiate the effects of this treatment.

      Very often hormone replacement therapies are applied in girls with Turner syndrome when they reach puberty to improve their biological maturation (for example to promote the onset of menstruation). Treatment is usually started with estrogen and later progesterone is given.

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