- Endocrinologist Henry Turner was the first to identify this disorder in the 1930s.
- Turner Syndrome is a growth and development disorder, it is exclusive to girls and is classified as very rare.
- Between January 2019 and May 2023, the IMSS granted a total of 16,399 Family Medicine consultations and 18,039 specialty consultations for cases of this disease.
Keeping control of the growth in an infant is basic to determine its correct state of health. It is also one of the principles to identify possible cases of turner syndrome although specific professional tests are also required to achieve an accurate diagnosis.
In the first instance, this disorder of growth and development is exclusive to girls and is classified as very rare. According to the latest report of the National Center for Child and Adolescent Health (CENSIA)affects only one in 2,500 newborns.
Among the main characteristics of those who suffer from it are short stature, increased volume of the neck or the back of the hands or feet; lack of development of the ovaries, bone anomalies, cognitive alterations, as well as malformations in the heart or kidney problems.
How is Turner Syndrome diagnosed?
According to the Mexican Institute of Social Security (IMSS) there are technology tests such as the karyotype and ultrasound study to detect the condition from birth and even in the prenatal stage. The goal is to start treatment in a timely manner and avoid sequelae such as short stature, bone malformations, heart and kidney problems.
Dr. Juan Carlos Huicochea Montiel, a physician attached to the Department of Medical Genetics of the Pediatric Hospital of the Siglo XXI National Medical Center (CMN), explained that the syndrome is caused by the alteration or lack of an X chromosome.
For its part, only between January 2019 and May 2023, the IMSS has granted a total of 16,399 Family Medicine consultations and 18,039 specialty consultations.
Dr. Huicochea Montiel mentions that the specialists of Maternal Fetal Medicine They can detect genetic alterations prior to the birth of the baby. While at birth it is evaluated in a multidisciplinary way by pediatricians, neonatologists, cardiologists and geneticists, who look for clinical manifestations that allow confirming the diagnosis.
With this in mind, the karyotype study is a tool that allows timely detection of alterations at the chromosomal level to confirm the diagnosis. In this way, clinical follow-up and genetic counseling can be provided to families.
Another opportunity for detection is during the check-ups of the girl and the healthy boy in the Family Medicine Unit (UMF).
For his part, the geneticist doctor pointed out that the IMSS provides treatment with growth hormone to patients with turner syndromesince it favors a better height prognosis compared to those who do not receive treatment during childhood.
A disease of unknown origin
So far, no direct cause or risk factor for the missing chromosome has been identified. Nor has it been possible to find a direct relationship with the consumption of alcohol, tobacco, drugs, environmental factors, or any disease or infection that the woman has during pregnancy.
He noted that up to 99 percent of babies conceived with a 45X chromosome complement suffer a miscarriage, while only one percent go to term and develop the Turners syndrome.
Finally, the name of this syndrome is in recognition of the endocrinologist Henry Turnerwho along with other researchers began to document and describe the health problems of patients, in the thirties of the last century.
Also read:
Celebrities and celebrities diagnosed with Turner Syndrome
Main factors that impede the growth of a boy or girl
Turner Syndrome: Symptoms and Warning Signs for Detection