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Turners Syndrome
4
Turners
Syndrome
Lizbeth Sanchez,
Daija Wilborn - Bing
Dianareli Dolores
What is Turner's syndrome?
Females have Turner syndrome, one copy of the X chromosome is missing, partially missing or altered.
Chromosomal
Causes
Can be detected before birth through a
- prenatal cell-free DNA screening
- prenatal ultrasound
Monosomy
Monosomy
The complete absence of an X chromosome generally occurs because of an error in the father's sperm or in the mother's egg
Mosaicism
MOSAICISM
An error occurs in cell division during early stages of fetal development.
This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome.
x- Chromosome
X chromosome Abnormalities
The child can can an abnormality or missing parts of one of the X chromosomes
The error can occur in cell division in early fetal development
This error can occur in the sperm or egg with all cells having one complete and one altered copy.
y
Chromosome
Y Chromosome Material
A female can carry some cells that have one copy of X chromosomes and some y chromosome material
In this case the presence of some y chromosome material increases the risk of a cancer called Gonadoblastoma
Rate
Charts
Approximately 99% of fetuses terminate in the first trimester
Statistics
It is estimated that more than 70,000 women and girls have Turners Syndrome
1 in 2000 to 1 in 2500 live female births. Turners syndrome is 10% the account of abortions
This chart provides statistics of the phenotypes in turner syndrome that occurs after birth. These could also be consider the physical appearance that some woman or girls will have with turner syndrome and some may not.
The phenotypic effects
Mild signs and symptoms --> diagnosis is delayed until teen or young adult
Failure of the ovaries to develop
Phenotype
effects
Others
Heart defects
Short height/Slowed growth
Early end to menstrual cycles not due to pregnancy
For most women, inability to conceive a child without fertility treatment
Broad Chest
Swollen hands and feet
Low set ears
Low set ears
Normal set ears are parallel to the human eyes and face structure. In turners syndrome the ears are slightly under the face structure as shown in the photo.
Webbed neck
Webbed neck and lower hairline
Some females with turners syndrome have extra folds of skin at the neck and a lower hairline on the back of the neck.
Swollen hands and feet
Hands and feet may be swollen at birth due to obstruction of the lymphatic system during fetal development .
Broad Chest With Widely Spaced Nipples
Some will have a broad chest with widely spaced nipples.
Broad Chest With Widely Spaced Nipples
High, narrow roof of the mouth (palate)
Arms that turn outward at the elbows
Fingernails and toenails that are narrow and turned upward
Receding or small lower jaw
Short fingers and toes
Drugs on the market?
Treatments?
Treatment
Treatments help minimize its symptoms
- Human Growth Hormone Injection
- From early childhood helps increase adult height by a few inches
- Estrogen Replacement Therapy (ERT)
- Helps start secondary sexual development that usually begins at puberty (Around age 12)
-Helping with breast development and development of wider hips
-Some may prescribe a combo of estrogen and progesterone to girls who haven’t started menstruating by age 15
-Fertility Treatment
- Most women are not able to conceive a child without it
With continuous medical care from various specialists,
regular checkups and appropriate care most females are able to live healthy and independent lives
Comparisons
Comparisons
Patau Syndrome
Limits mobility without aid, visually
impaired and short life expectancy
--> Worse than Turners syndrome by
one point
Down Syndrome
Low muscle tone, making it harder to move with precision; flat facial features; eyes have an upward slant; smaller ears; smaller nose; single Palmer crease; tongue tends to protrude --> unclear speech
--> More tolerable than Turners syndrome because less
internal problems
Edwards Syndrome
90% die within a year; many are prone to getting sick easily; lung problems; decisions for treatment
--> Worse than turners syndrome by two points
Works Cited
Works Cited
“Turner Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and Research,
18 Nov. 2017, www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782.
“What Are Common Treatments for Turner Syndrome?” Eunice Kennedy Shriver National
Institute of Child Health and Human Development, U.S. Department of Health and Human Services, www.nichd.nih.gov/health/topics/turner/conditioninfo/treatment
'Turners Syndrome'
https://rarediseases.org/rare-diseases/turner-syndrome/.