Turner Syndrome Treatment, Drugs, Causes, Symptoms, and Diagnosis

Turner Syndrome is a condition that affects females both girls and women. This is a state where a sex chromosome (the X chromosome) is either missing or partially missing. Tis genetic disorder usually affects about 1 in every 2,000 girls. Turner syndrome usually causes shortness among females, but the good news is that this disorder can be treated using growth hormones helps them grow taller.

Turner Syndrome Drugs

  • Genotropin/ Somatropin (Rbe)
  • Zomacton/ Somatropin (Rbe)
  • Humatrope/ Somatropin (Rbe))
  • Norditropin SimpleXx/ NutropinAq
  • Somatropin (epr)/ Norditropin Simplexx)
  • Somatropin (rbe)/ Somatropin (rmc)
  • Saizen/ Somatropin (Rmc)

Turner Syndrome Symptoms

The most notable symptom is shortness. Almost all girls born with Turner syndrome are short with underdeveloped ovaries. Also, girls with Turner syndrome have distinctive features and associated health conditions apparent from birth. During birth, they may have swollen hands and feet caused by excessive fluids build up in the surrounding tissues. It’s a condition known as lymphedema, and it clears soon after delivery.

Other signs developed in the womb include:

  • Heart conditions
  • Swelling of the neck (cystic hygroma)
  • Being a small baby
  • Thick neck tissue
  • Kidney abnormalities

Symptoms are many among girls and women living with Turner syndrome. Other general features are listed below:

  • Shortness
  • Webbed neck
  • Low hairline
  • Spoon-shaped nails
  • Broad chest
  • Short fingers
  • Mouth abnormalities

Turner Syndrome Causes

The genetic cause of Turner syndrome is usually involved with chromosomes. As mentioned earlier, a girl suffering from Turner syndrome has only one normal X chromosomes, rather than the two (XX). Additionally, everyone is born with 23 pairs of chromosomes. The sex chromosomes are the ones that determine the gender of the baby. Both parents contribute one sex chromosome each.

Girls have two X chromosomes (XX), and boys have (XY) chromosomes. The Y chromosomes determine “maleness,’ so in case it misses, the child sex will automatically be female.this is to say, a female with Turner syndrome is missing all of one sex chromosome. This means she has only one complete X chromosome. This chromosome variation happens randomly during conceiving. This syndrome can be described in two ways:

  • Classic Turner Syndrome- one X chromosome is entirely missing.
  • Mosaic Turner syndrome- one X chromosome is complete, and the other is partially missing or abnormal.

Turner Syndrome Diagnosis

Turner syndrome diagnosis is usually done after birth or around puberty. A special test is recommended if the girl develops signs of Turner syndrome. This test is known as karyotype that works through counting the number of chromosomes in the girls as well as identifying those that are abnormally shaped or those with missing pieces.

In most cases, there may be no clear signs that a girl has Turner syndrome not until she reaches puberty stage. If the karyotype turns positive meaning that the girl has Turner syndrome, the doctor will recommend additional tests, they will include:

  • Heart Test
  • Kidney Test
  • Hearing, and other complications associated with Turner syndrome.

Turner Syndrome Treatment

Turner syndrome has no cure, but its associated symptoms can be dealt with mainly before birth (prenatal), during infancy or in early childhood. Both girls and women are advised to have regular health checks of their kidneys, heart and reproductive system throughout their lives. However, the victims of this syndrome can still live a relatively normal life.

To minimize the symptoms of Turner syndrome below is a list of different treatment that can be used:

  • The use of a growth hormone known as Genotropin (Pfizer)
  • Increase growth with approved growth hormone mixed with a low dose of androgen.
  • Estrogen replacement therapy like birth control pill to promote the development of sexual characteristics.
  • Turner syndrome woman can be exposed to modern reproductive technologies to help her get pregnant.

Additionally, girls and women diagnosed with Turner syndrome can be monitored in the following areas that include, Hearing and ears, Blood Pressure, Thyroid gland, Glucose levels, and Bone mineral density. This monitoring should be done throughout their lives.