What is Turner Syndrome?
While males have an X and a Y chromosome, females are born with two X chromosomes. Turner’s syndrome is a condition in young girls born with one of the 2 X chromosomes missing (either completely or partially).
Missing one chromosome is known as monosomy when it affects all cells within the body. If the condition results in a single chromosome in some but not all cells, it’s called mosaicism. In monosomy, the sperm cell that fertilized the egg lost its sex chromosome. In mosaicism, however, happens early on in fetal development. As it occurs during cell division, it only affects a portion of the cells.
TS results in shorter height in comparison with others of the same age. Without early enough treatment, this will continue into adulthood. However, treatment with human growth hormone therapy can help.
During a prenatal ultrasound, certain signs suggest TS, such as:
- Kidney abnormalities
- Delayed growth
- Less developed nails
- Heart abnormalities
- Flat feet
- Ear prominence
- Rounded spine
- Webbed neck
TS is typically not hereditary but happens due to abnormalities in chromosomes. It’s a random result of mistaken cell division during reproductive cell formation.
If a doctor suspects Turner syndrome, they will run a karyotype test to establish their number of chromosomes. Through this test, they can identify if any chromosomes are abnormal. Diagnosis typically happens after birth or during puberty.
Turner syndrome Treatment
Early diagnosis of TS is essential for successful treatment as there’s no ultimate cure. FDA approved HGH therapy for Turner Syndrome in 1996 to help progress towards normal maturation. Endocrinologists will monitor the symptoms and recommend a specific dosages for each case in HGH treatment. They may also opt for estrogen replacement therapy to help young girls develop certain physical characteristics associated with puberty.
FDA Approved Usage
HGH (Human Growth Hormone) or Somatropin has been approved to treat this condition.