Turner Syndrome, A Genetic Disorder - Causes, Symptoms, Diagnosis and Treatment

Turner Syndrome, A Genetic Disorder

Dr.Manjeet Mehta profile Authored by Dr.Manjeet Mehta on 14 Jan 2015 - 11:20.

Turner Syndrome, A Genetic Disorder

Turner syndrome (also called as 45 X, monosomy X, TS and Ullrich-Turner syndrome) is a genetic disorder that typically affects females in terms of altered growth and physical development, short height, delayed puberty, including a wide range of congenital heart defects, altered mental development like slow learning (in rare cases) and so on. Normally, females have two chromosomes - XX and Turner syndrome occurs when one of the X chromosomes is structurally altered or completely absent. It does not affect men as there are no Y chromosome involved in the Turner Syndrome.

It is a rare condition affecting about 1 in 2,500 live females around the globe. A lot of pregnancies with 45, X fetus do not survive to term. When researched about a particular gene associated with specific symptoms, alteration in SHOX gene was found to be associated with short stature and other skeleton related abnormalities.

This genetic abnormality is a random event that may occur during the formation of the egg or sperm of the parents of the proband. In most of the cases, Turner’s syndrome is not inherited, but in rare cases, Turner Syndrome caused due to deletion of the X chromosome may pass on to the next generation. Although this is not a medical emergency, it requires various specialists’ care to lead an independent and normal life. 

As discussed, missing or significantly altered X chromosome is responsible for Turner’s syndrome. Genetic alterations may occur as follows:

Monosomy: X chromosome is completely missing due to abnormality in the egg or sperm of her parents. All cells have one X chromosome only.

Mosaicism: Turner’s syndrome occurs due to altered process of cell division during early phases of pregnancy. Some cells may have two copies of the X chromosome, while others may have only one or one complete and one abnormal chromosome.

Y chromosome material: In rare cases, Turner’s syndrome may result from the presence of Y chromosome material in any one copy of the X chromosome while other one copy of the X chromosome is normal. Such females with the Y chromosome material have increased risk of specific cancer, gonadoblastoma.

X chromosome structural abnormalities: like Isochromosome X, deletion / duplication of an arm or a segment from X chromosome, etc.

Symptoms presented due to Turner Syndrome may vary in terms of severity and presentation. Most babies are not identified at birth, they are usually suspected at around 3 years of age (due to short stature), or at puberty (failure to attain menarche). Following are some common signs that are associated with Turner Syndrome:

In infancy, the following structural abnormalities may indicate Turner’s syndrome:

  • Webbed neck
  • High arched palate
  • Short and/or thick ears
  • Low hairline on back
  • Flat and broad (shield-shaped) chest
  • Widely spaced nipples
  • Dwarfed fingers
  • Upward directed nails
  • Decreased carrying angle, especially at the elbows (Cubitus valgus)
  • Swollen palms/ hands and feet during birth
  • Abnormally small size

In teen age or older females:

  • Delayed growth
  • Extra folds of skin on the neck
  • Abnormally short height noticeable by the age of 5 years.
  • Altered learning ability
  • Behavioral alterations
  • Unable to adjust in and understand the social behavior
  • Delayed puberty or no menarche (absence of periods)
  • Slow development of secondary sexual characteristics
  • Abnormally early end of menstruation
  • Infertility due to early loss of ovarian functions. However, with effective hormone treatment, some may conceive.
  • Dry eyes
  • Dry vagina, causing pain during intercourse
  • Kidney problems

When to see a doctor?

Most of the times it becomes difficult to identify the Turner syndrome as several other diseases and disorders also have similar signs and symptoms. So, if you notice any signs and symptoms like structural and behavioural abnormalities (as mentioned in symptoms), see your doctor immediately for further diagnosis, assistance and treatment. Also, get yourself screened during pregnancy if anyone in the family has this Turner syndrome. 

Based on the symptoms, suspected Turner’s syndrome may be diagnosed either during childhood or at puberty. Diagnosis may involve a physical exam and some specialized laboratory investigations like Cytogenetics.

Physical exam –  To look for visible and reported symptoms.

Blood test and urine test – To look for altered blood hormone level.

Cardiac echo or Echocardiogram –To look for heart defects.

Karyotyping –To examine the chromosomes using blood.

Imaging tests – MRI of the chest or ultrasound of pelvic region may be performed.

Diagnosis during pregnancy (Prenatal diagnosis)

Ultrasound: To look for abnormal features that may raise the possibility of having Turner’s syndrome. E.g. Accumulation of fluid around the neck (cystic hygroma), heart defects, etc.

Cell-free fetal DNA testing: It is a non-invasive screening performed using blood samples of the expecting mother to check for abnormalities suspected in the fetus. This test has limited applications as well as other limitations.

Amniotic fluid test or AFT: Fluid in the womb (amniotic fluid) is removed to be tested.

Chorionic villus sampling (CVS): Sample tissue from the placenta is examined.

It is a random genetic disorder that may or may not recur, so family history or one child with Turner’s syndrome does not seem to be a risk factor. However, it is much more common in pregnancies facing issues like miscarriages and stillbirths.

Complications: As it is associated with various developmental and birth defects, if not managed promptly and effectively, it may cause following complications:

  • Aortic dissections/valve stenosis
  • Increased risk of other heart diseases
  • Diabetes
  • Blood pressure
  • Hearing loss
  • Risk of ear infections
  • Altered kidney functions
  • Risk of urinary tract infection
  • Hypothyroidism and other immune disorders like Celiac disease
  • Inflammatory bowel disease (IBD)
  • Tooth loss and other dental issues
  • Heterotropia or colloquially (causes altered alignment of the eyes)
  • Hypermetropia (condition in which person can see the objects at distant places and not able to see nearby objects)
  • Abnormal structure of the spine (scoliosis)
  • Exaggerated rounding of the back
  • Osteoporosis
  • Risk of hypertension and gestational diabetes
  • Mental and psychological issues like attention-deficit hyperactivity disorder (ADHD)

As there might be multiple symptoms, different treatments may be required to treat the respective condition. Usually, drugs and medications are the primary treatments recommended and later specific care under the guidance of multiple specialists may be required.

Drugs and medications: Following hormone therapies may be recommended.

Growth hormone therapy: Hormones like somatropin may be given multiple times a week to increase height in teenage girls. Oxandrolone may be given in addition, if the height is too short.

Estrogen Therapy: To initiate puberty and promote sexual development.

Infertility treatment: Some patients with Turner’s syndrome may conceive even without treatment, but some may require following infertility treatments like with donated egg or embryo, special hormone therapy, and so on.

General tips!

  • Include foods rich in calcium and vitamin D or supplements
  • Plan regular health checkup to track the overall health
  • Maintain a healthy weight
  • Eat low sodium diet and include fresh vegetables, fruits and whole grains
  • Exercise daily to keep the bones healthy
  • Avoid alcohol and caffeinated drinks
  • Limit smoking
  • Manage diabetes and high blood pressure.




*Disclaimer This is not medical advice. The content is for educational purposes only. Please contact your doctor for any health care issues.