This Sunday, August 28, the World Day of the turner syndrome, a disorder that occurs when an X chromosome is missing, either partially or completely. The disorder usually appears sporadically and, so far, the risk factors for developing it are unknown.
It is a syndrome that only affects the female sex and can cause:
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Development problems.
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Heart defects.
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Short stature.
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Abnormal development of ovaries (it is present in 90% of cases).
Turner Syndrome can be diagnosed during pregnancy, by prenatal testing (free fetal DNA analysis or ultrasound), or during childhood. Diagnosis is also likely to be delayed until early adulthood if the symptoms of the ailment are very mild.
As explained by the (AEP), “the prevalence is estimated at around 1/2,500-3,000 live newborns, although today it is known that 45X0 fetuses account for 1-1.5% of conceptions, with 99% being spontaneous abortions.” and 1% those who would survive”.
The Drs. Ana Coral and isabella gonzalez, from the Pediatric Endocrinology Service of Hospital La Paz in Madrid, point out that “it is common for babies to be born 2-3 cm less than estimated for their gestational age, as well as with a low weight (about 500 g less)”. Short stature, as already mentioned, is the most frequent trait.
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“Growth speed slows in the first three years of life, with hypogrowth in half of the patients during the first year, with height below the 3rd percentile in approximately 75% of those affected at 3-5 years” .
Symptoms of Turner Syndrome
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Wide neck.
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small jaw
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Swelling of hands and feet.
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Auditory alterations.
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Chest with widely separated nipples.
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Both fingers and toes very small.
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During adolescence: absence of menstrual cycles.
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Inability to become pregnant unless undergoing fertility treatment.
As the specialists emphasize, those affected by Turner Syndrome usually have “normal intelligence, although they are more likely to present learning deficits, especially in non-verbal areas: visuospatial, mathematics, psychomotor skills, etc. All of this, added to hearing loss, can lead to learning difficulties”.
How Turner Syndrome is Diagnosed
The symptoms of Turner Syndrome can be confused with those of another disorder. In the face of any evidence, it is important to obtain a rapid diagnosis to receive adequate medical care, especially for the heart problems it causes.
“In the face of those patients with the aforementioned clinical data, especially those with short stature and delayed puberty, it is necessary to perform a karyotype in peripheral blood lymphocytes, with at least a minimum analysis of 20 cells”, emphasize Coral and González.
However, “there is not yet sufficient evidence to support non-invasive prenatal diagnosis using fetal blood tests on maternal blood.”
Treatment
The treatment will vary according to the ailment of the affected person. However, most patients have to undergo:
- estrogen therapy. Starting at age 12, estrogen therapy should be started to promote breast development and uterine size. If combined with growth hormone, it can help you grow a few inches. On average, the common size among those affected with this disorder is 20 centimeters less than the female population.
- regular medical checks to improve their quality of life.