The direct answer to why Turner syndrome only affects girls is because both phenotypically and genotypically there is a absence of Y chromosome. This syndrome is the only viable monosomy in humans. To the no Y chromosome 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 the primary and secondary sexual characteristics.
Women with Turner syndrome have a childlike appearance throughout life. We explain this and other characteristics of this anomaly, which not considered disability, precisely on World Turner Syndrome Day.
When is it known if a girl has Turner syndrome?
Roughly 1 in 2500 girls has Turner syndrome, which is also called Bonnevie-Ullrich syndrome or gonadal dysgenesis, monosomy X. The most common is that the diagnosis is made newborn, especially if it has a characteristic crease in the neck (pterygium colli). But it may also be that a woman finds out that she has it just when she wants to be a mother and is sterile
It may be that, during childhood, the facial characteristics of the syndrome are not very striking, and that short stature is not seen as an anomaly with the naked eye. At birth, Turner girls are shorter in length and weigh less than other girls. During the first years of life, they grow almost as fast as those of their age, but with time, the difference in height becomes more evident. This difference is most noticeable as you enter puberty.
This sickness is diagnosed by a karyotype which is made from a blood sample of the patient. Almost half of the Turner girls have lost a complete X chromosome, and the loss of parts of chromosomes or a mixture of several of them in different cells is also common.
Can you make a prenatal diagnosis?
Yes, it is, but in most cases, and because it is a disease with so few subjects, it was not usually done. Even if nowadays it is more and more common that is done through the analysis of cells of the fetus, which can be obtained by: amniocentesis (performed in weeks 14-16 of pregnancy), a chorionic biopsy (during weeks 9-12 of pregnancy), or funiculocentesis (starting at 20 weeks of pregnancy).
These tests are done when suspicions appear on ultrasound. Some of the reasons for suspicion are hydrops fetalis, length of the femur below the average, cardiac malformations, gill and, above all, cystic hygroma on the neck.
Es important that the diagnosis is made as soon as possible to start treatment as soon as possible, and make it as effective as possible. The termination of pregnancy is raised, but it is a difficult decision. Thanks to science, the quality of life for girls with Turner syndrome has improved, and we hope it continues to improve every day.
Symptoms and treatment
The most common symptoms include: below average height, about 20 centimeters less,
frequent infections of the middle ear leading to deafness in some cases, short and wide neck, hair set low on the nape, swelling of the hands and feet, wide chest and widely separated nipples, arms slightly tucked in on the side of elbows, congenital heart defects, scoliosis, kidney, thyroid and bone problems.
Turner syndrome is not considered a disability, despite the difficulties that girls go through. In most cases, intelligence is usually normal, although with difficulty for abstract understanding, but developmental problems can hinder learning or have behavior 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. Adolescent girls receive estrogen treatment to provoke the development of secondary sexual characteristics. Later these estrogens continue to be administered to prevent osteoporosis.