- World Turner Syndrome Day is commemorated every August 28 to generate greater attention to girls who suffer from it.
- Timely diagnosis and treatment can optimize the treatment of patients and the psychosocial impact of this disease in adulthood.
- So far there is no cure for this disorder but there are treatments.
The Turner’s syndrome It is a growth and development disorder of girls and adolescents, which is very rare. According to the latest report of the National Center for Child and Adolescent Health (CENSIA), affects only one in 2,500 newborn girls. For this reason, it is considered a rare disease; however, it is the growth disorder that causes the most physical and emotional affectation in those who suffer from it.
Dr. Leticia García, pediatric endocrinologist and head of the Department of Endocrinology at the Federico Gomez Children’s Hospitalexplains that the Turner’s syndrome It is a genetic disorder that affects the development of girls. Its cause is a Missing or incomplete X chromosome.
“This growth disorder, which is not inherited, can lead to a variety of medical and developmental problems, including short stature, lack of sexual development and heart defects.”
How can it be diagnosed?
Timely diagnosis can optimize the treatment of these patients and their psychosocial impact in adulthood.
“Turner syndrome can be diagnosed before birth, during infancy, or in early childhood. Diagnosis is sometimes delayed until adolescence or early adulthood in women who have mild signs and symptoms of this disease.”
Before birth, the presence of Turners syndrome with a prenatal ultrasound or fetal DNA analysis to detect chromosomal abnormalities in the baby from a sample of the mother’s blood.
Main symptoms of patients
Beginning at birth and throughout childhood, some signs of Turners syndrome They have a wide neck and very lateral implantation. Also low-set ears, broad chest with wide-set nipples, low hairline on back of head, high narrow palate, narrow fingernails and toenails, bulge on dorsum of foot at birth, shorter than normal height. than average at birth, growth retardation, heart defects, receding or small lower jaw, short fingers and toes.
The most frequent signs of Turners syndrome in adolescence and youth are short stature and ovarian failure. Growth spurts typical of childhood do not occur in these patients and adult height is significantly shorter (20 centimeters) than that of their same-sex relatives.
Impact on physical and mental health
Dr. Garcia reported that the Turners syndrome it can affect the proper development of various body systems and that some of the complications that can occur are heart problems from birth, mainly with the aortic artery; high blood pressure; hearing loss; vision problems such as myopia and strabismus; malformation and kidney problems; autoimmune disorders such as Hashimoto’s thyroiditis and inflammatory bowel disease; obesity and increased risk of diabetes; as well as problems with bone growth and development, leading to a forward curvature of the upper back and a propensity for osteoporosis.
“In addition to these symptoms, what causes a great psychological affectation in patients is the impossibility of initiating the expected sexual changes of puberty, which stops development and leads to infertility in most cases.”
Intelligence is normal in most cases, but there may be developmental delay; learning problems related to memory and attention, and behavior problems.
“Girls with Turner syndrome may have difficulty functioning in social situations, suffer from obsessive-compulsive disorder, as well as anxiety and depression, and have an increased risk of attention deficit hyperactivity disorder.”
Medical care to live with quality
“Patients with Turner syndrome have a real chance of having a better quality of life. To do this, they need constant medical attention from various specialists. Regular check-ups and proper medical care can help most girls and women live healthy, independent lives.”
According to Dr. Garcia, there is no cure for Turner syndrome, “but there is treatment to improve its symptoms, such as human growth hormone or somatropin, which leads to an increase in height comparable to that of healthy women. To help initiate sexual development, signs of which usually appear at puberty, between the ages of 9 and 12, doctors may prescribe a combination of estrogen and progesterone, which encourages a girl to start menstruating and protects her against osteoporosis.”
Also read:
This is the leading Mexican hospital for Turner Syndrome care
Chart of the day: The only 20 rare diseases that are recognized in Mexico
Keys to improve the panorama of rare diseases in Mexico