The direct answer to why Turner syndrome only affects girls is because both phenotypic and genotypically there is an absence of Y chromosome. This syndrome is the only viable monosomy in humans. In the absence of the Y chromosome the female sex is determined, and the fact that there is no pair, that is the absence of the second X chromosome determines the lack of development of primary and secondary sexual characters.
Women with Turner syndrome have a ringed appearance throughout life. We explain this and other features of this anomaly, which is not considered a disability, precisely on World Turner Syndrome Day.
When is it known if a girl has Turner syndrome
Approximately 1 in 2,500 girls suffer from Turner syndrome, which is also called Bonnevie-Ullrich syndrome or gonadal dysgenesis, monosomy X. The diagnosis is most common for a newborn, especially if they have a characteristic crease in the neck (pterygium colli). But it may also be that a woman finds out that she suffers from it just when she wants to be a mother and has sterility
During childhood, the facial features of the syndrome may not be very striking, and the short stature is not considered by sight as an anomaly. At birth, Turner girls have a shorter length and weigh less than other girls. During the first years of life, they grow almost as fast as those of their age, but over time, the difference in height becomes more evident. This difference is most noticeable when entering puberty.
This disease is diagnosed by a karyotype that is performed from a sample of blood from the patient. Almost half of Turner girls have lost a complete X chromosome, and loss of parts of chromosomes or mixing several of them into different cells are also common.
Can a prenatal diagnosis be made?
Yes, it is, but in most cases, and because it was a disease with so few subjects, it wasn’t used to be done. Although it is now increasingly common to be done through the analysis of fetal cells, they can be obtained by: amniocentesis (performed in 14-16 weeks of pregnancy), a chorial biopsy (during weeks 9-12 of pregnancy), or funiculocentesis (from 20 weeks of pregnancy).
These tests are done when there are suspicions on ultrasound. Some of the reasons they suspect are hydrops fetalis, femur length below average, heart malformations, branchicephaly and, above all, cystic hygroma in the nape.
It is important that the diagnosis is made as soon as possible to begin treatment as soon as possible, and that it is as effective as possible. Termination of pregnancy arises, but it is a difficult decision. Thanks to science, the quality of life of girls with Turner syndrome has improved, and we hope that it will continue to improve every day.
Symptomatology and treatment
The most common symptomatology includes: height below average, about 20 centimeters less,
frequent infections of the middle ear leading to deafness in some cases, short and wide neck, hair with low implantation on the nape, swelling of hands and feet, wide chest and nipples far apart, arms a little tucked inward into the elbows, congenital heart defects, scoliosis, kidney, thyroid and bone problems.
Turner’s syndrome is not considered a disability, despite the difficulties that girls go through. In most cases intelligence is usually normal, although with difficulty in abstract understanding, but developmental problems can make learning difficult or behavioral problems. They are girls prone to low self-esteem, anxiety, and depression.
Girls with Turner are treated with growth hormone and the results suggest that the final height can be increased from 5 to 10 cm. Adolescents are treated with estrogens to provoke the development of secondary sexual characteristics. Later these estrogens are still administered to prevent osteoporosis.