Raising awareness about Turner Syndrome affecting females

Turner Syndrome, although a rare disease, is one of the most common chromosomal alterations in humans, explains a geneticist from the UAG.

Raising awareness about Turner Syndrome affecting females
Educating the public on the prevalence of the female-specific disorder Turner Syndrome. Credit: Genome

Every August 28th, awareness is raised on World Turner Syndrome Day, a condition that is a rare disease caused by the total or partial loss of the X sex chromosome in women.

Although it is a rare disease, it is the most frequent chromosomal alteration in humans, it occurs in 2 percent of all conceptions, but most of them result in miscarriage, informed Dr. Helen Ramirez Plascencia, geneticist, and professor of the Health Sciences Area of the Autonomous University of Guadalajara (UAG), who teaches Epidemiology, Medical Research and Physiology and Bases of Neurosciences.

The prevalence of the syndrome in the population is 1 in every 2,000 to 2,500 women born alive.

What is Turner Syndrome?

It is a genetic disorder for which there is no cure and it is the total or partial loss of the X chromosome at the moment of conception of a human being, which in a certain way is exclusive to women, it is known as Syndrome 45 X, generally, women must have 46 XX. While men have 46 XY chromosomes.

"It is frequently presented as mosaicism or genetic mosaic, which refers to a subgroup of cells that have this condition, while the other subgroups may be normal," she said. This characteristic means that each woman with Turner syndrome has specific clinical characteristics.

How it affects the Turner syndrome sufferer

The syndrome shows physical characteristics in women:

  • They have a phenotype: they are girls with wide or webbed necks (little pyramid-shaped necks).
  • Low-set ears or below normal.
  • Their life expectancy is shorter than a normal female.
  • Wide chests, since breasts are not developed.
  • They suffer from growth retardation and short stature.

They also present clinical and psychological symptoms, although they are variable such as:

  • Ovarian failure results in infertility.
  • Congenital heart defects.
  • Endocrine disorders, diabetes mellitus 1, osteoporosis, and autoimmune disorders.
  • Hearing, visual, renal, and gonadal deficiencies.
  • Cognitive delay.
  • Anxiety and depression.
  • Lack of self-esteem.

Unfortunately, the condition has no cure, but there is treatment, although it is necessary to find out all the signs and symptoms to apply a hormonal procedure to substitute the hormones that are not produced, such as growth hormone.

Those who suffer from Turner syndrome can take educational support therapies, psychosocial therapy, and motor skills.

"All her life she will need multidisciplinary medical care and her mortality risk is higher than that of other women. Even though its symptoms are characteristic, there is a considerable delay in diagnosis, and women who suffer from it are generally diagnosed until they are 15 years old when they could be diagnosed from their first years of life, which would lengthen their chances of surviving and leading a relatively normal life," added the doctor.

For an accurate and timely diagnosis, the doctor recommended pregnant women see a perinatal physician.

During pregnancy, the syndrome can be suspected and detected in the following alterations: embryonic growth retardation and nuchal translucency, which provides a better reference for diagnosing, in turn, embryonic heart defects or renal dysplasias.

How to diagnose Turner Syndrome

There is the Karyotype test, it should always be diagnosed with this test, not only based on the clinic.

Nowadays technology has advanced and allows diagnosis before birth, the test is non-invasive and is called Free Circulating DNA, with 95% reliability. This allows the diagnosis of Turner Syndrome before birth.

The doctor mentioned that the parents of a girl with Turner syndrome are not exempt from having another daughter with the same affectation, so genetic counseling is recommended to find the possible cause and rule out risks.