Turner Syndrome. Synonyms and related keywords. 45 X Karyotype syndrome. Bonnevie-Ullrich syndrome. Gonadal dysgenesis. Monosomy X. History. Henry Turner, 1938 Ford et al ., 1959. Frequency. 1 in 2,000 live-born female infants.
Henry Turner, 1938
Ford et al., 1959
In Sudan ?
No racial or ethnic predilections.
1. Absence of one copy of X chromosome.
Paternal loss in 62%
Maternal in 48%
2. Patient with Mosaic karyotype.
3. Structural rearrangement result in loss of
4. Loss of the SHOX gene.
Variety of Turner syndrome.
99% of cases
1 in 2,500 or
1 in 2,000
may have 3D spatial problems
or math problems.
Under- developed ovaries
95% of adult with
exhibit short stature
94% of patients are infertile
Pregnancy has been achieved by:
1. Fresh embryo.
2. Frozen embryo transfer.
Delivery by caesarean section is
related to small pelvic outlet size.
Patients may present with
hypoplastic nails and lymphedema gives a
characteristic sausage-like appearance to the fingers and toes.
The toes have the characteristic
Is high due to:
1. Coarctation of the aorta.
2. Cardiovascular disease.
3. Obesity, associated diabetes and hypertension.
Life expectancy is reduced by 10 years.
Individuals with mitral or aortic valve disease require
prophylaxis for sub acute bacterial endocarditis (SBE).
At 1 year-age.
Before entering school.
A cardiologist should evaluate patients at diagnosis.
1. Risks of aortic root dilatation.
2. Risks of Aortic dissection.
Complete cardiovascular evaluation
For all patients prior to attempting
assisted reproduction or conception.
1. Growth hormone.
Attention should be paid to:
1. Growth and development,
2. Thyroid status
Patients on growth hormone should be seen every 3-4 months.
Should be considered in Individuals with :
Turner syndrome may be diagnosed prenatally by:
2. Chorionic villous sampling.
loss of action SHOX gene on the X-chromosome.
treated by growth hormone
to maintain secondary sexual development
therapy is standard
to prevent short stature
as an adult.
Cecilia takes her daily growth hormone injection
"My name is Regina and I’m 9 years old. I felt that taking my growth hormone injection was a bit difficult in the beginning, but I practiced with an orange and after a while I found out how to do it, and now it’s just a habit like brushing your teeth."
early can compromise adult height.
age 12-15 years.
Prophylaxis is required prior to and
dental or surgical procedure in women
with cardiac valve disease, to prevent
subacute bacterial endocarditis.
Turner syndrome individuals exhibits
high risk of keloid formation.
Subacute bacterial endocarditis
disorder, and the recurrence risk is low.
1. Suspected mosaicism for all, or part
2. Virilization with part of Y chromosome.
individuals will be shorter than average.
Life expectancy is slightly shorter.
Almost all individuals will be infertile, but
pregnancy with donor embryos is possible.
# Barr bodies=
and X inactivation
Perhaps not complete inactivation or
inactivation does not happen immediately,
Then some overexpression of X-linked genes
A precursor cell to all coat color cells
Random inactivation early in dev.
**Also in calico cats
Inactivation is random during development
Color pattern seen in female calico cats due to random X chromosome inactivation
Barr bodies in female cellsX chromosome inactivation
dysplasia in a heterozygous woman