Turner syndrome

21:55 - 4 May , 2021

Disease

What is Turner syndrome?

It is a genetic condition exclusive to women in which one of the two X chromosomes is missing or one of them is incomplete. It is important to remember that chromosomes contain the DNA and genes of an organism, including the two that define a person's sex. Females have two chromosomes of the same sex (XX), while males have one X and one Y chromosome.

Symptoms

The predominant signs at any age are short height and ovarian insufficiency, accompanied by the following symptoms, which can vary among girls, adolescents, and young women with this condition:  
  • Short height and weak complexion.
  • Growth deficiencies in childhood.
  • Interruption of sexual development in adolescence.
  • Late sexual maturation. 
  • Menstruation irregularities.
  • Infertility.
Other visible signs are:
  • Wide neck.
  • Low ears.
  • Low lower jaw.
  • Narrow palate.
  • Droopy eyelids and dry eyes.
  • Short fingers and swelling in both limbs. 
  • Narrow nails curved upwards.
  • Wide and flat chest.
  • Low height and weight at birth.

Diagnosis and treatment

This rare disease can be diagnosed at any stage of life, including before birth through prenatal chromosomal testing; during infancy or early childhood; adolescence or adulthood. To determine it, blood hormone level tests and imaging studies must be performed, such as X-rays, cardiac ultrasound, karyotyping, chest MRI, and kidney and genital ultrasound. Once Turner syndrome is detected in a minor, the treatment to be followed will depend on its symptoms and complications, since each case is assessed personally. However, the most common treatments consist mainly of hormonal therapies:
  • Growth hormone: consists of daily injections of this hormone to promote close to normal development and increase height. The sooner treatment is started at an early stage, the better chance of improving height and bone growth. Oxandrolone can also be given to girls with serious height and development problems, which increases the production of protein in the body with the corresponding beneficial effects.
  • Estrogen: usually begins at age 12 to directly affect the volume of the breast and uterus. In addition, estrogen promotes bone mineralization, which in combination with growth hormone, promotes height gain. Typically, this treatment is given until menopause.
Patients with Turner syndrome can lead a normal life under continuous medical supervision, since some health problems may occur throughout its development, such as:
  • Cataracts.
  • Diabetes.
  • Scoliosis.
  • Obesity.
  • Osteoporosis.
  • Hearing loss.
  • High blood pressure.
  • Kidney involvement.
  • Thyroiditis.
Comprehensive women's health is our priority at the Women's Center, so we offer services focused on women in all their chronological stages with the highest standards of care to improve their quality of life, through a wide range of prevention, diagnosis, timely treatment, and follow-up services.  It has three specialized units:
  • Obstetrics Center.
  • Gynecology Center.
  • Gynecology in adolescence.
Reasons to choose our Women's Center:
  • Multidisciplinary team: we have obstetrician gynecologists and specialized nurses who provide gynecological and prenatal care.
  • Personalized and humane care: our services are designed to meet your individual needs and preferences, ensuring that you receive humane care that allows you to have a healthy life.
  • Better treatment options: reducing hospitalization times, a quicker and less painful recovery, and taking care of the aesthetic appearance of our patients.
  • Robot surgery: we have a great technological development that allows us to perform more precise surgical procedures using robotic instruments and an endoscopic video camera.
  • Comfortable facilities with state-of-the-art technology: in case of requiring special care, we have facilities fully equipped with the latest technological advances.

Fuentes:

  • turnersyndromefoundation.org
  • mayoclinic.org
  • medlineplus.gov
  • kidshealth.org
  • aeped.es.
  • medigraphic.com
  • Agramonte MA, Martínez M, del Valle CE, et al. Características psicosexuales de mujeres con síndrome de Turner tratadas con hormona de crecimiento. RSS. 2018;24(1):45-55.
  • Jiménez-Madrid JH, Indira-Roncancio T. Síndrome de Turner mixoploide: aberración estructural del cromosoma Y y su correlación con los dermatoglifos. Ginecol Obstet Mex. 2018;86(02):137-145.
  • Domínguez HC, Torres MA, Álvarez HL, et al. Síndrome de Turner. Experiencia con un grupo selecto de población mexicana. Bol Med Hosp Infant Mex. 2013;70(6):467-476.
  • López-Uriarte A, Barboza CC, Gómez PV, et al. Secuencias del cromosoma «Y» en una niña con síndrome de Turner: implicaciones clínicas. Rev Mex Pediatr. 2013;80(6):232-235.

						
The dissemination of the content of this material is for informational purposes only and does not replace, under any circumstance or condition, a consultation with a specialist doctor, for which the ABC Medical Center is not responsible for the different use that may be given to it. If you require more information related to the subject, we suggest you contact the specialist doctor you trust directly.