Turner syndrome

1.

Prepared by: Abdildina Akbota

2. Plan

1. History
2. Frequency
3. Genetic mechanisms
4. Symptoms of Shereshevsky-Turner
syndrome
4. Phenotip
5. Diagnosis
6. Videoclip

3.

45 X Karyotype syndrome.
Bonnevie-Ullrich syndrome.
Gonadal dysgenesis.
Monosomy X.

4.

The syndrome is named after Henry Tur
ner, an Oklahoma endocrinologist, w
ho described it in 1938. [ Turner HH.
(1938). A syndrome of infantilism, co
ngenital webbed neck, and cubitus v
algus. "Endocrinology". 23:566574. ] In Europe, it is often called Ul
lrichTurner syndrome or even Bonnevie
-UllrichTurner syndrome to acknowledge t
hat earlier cases had also been descri
bed by European doctors.The first pu
blished report of a female with a 45,
X karyotype was in 1959 by Dr. C
harles Ford and colleagues in Harw
ell, Oxfordshire and Guy's Hos
pital in London

5. Incidence

Approximately 98% of all fetuses with Turner syndrome result in miscar
riage. Turner syndrome accounts for about 10% of the total number of s
pontaneous abortions in the United States. The incidence of Turner synd
rome in live female births is believed to be 1 in 2500.

6.

1
in 2,000 live-born female infants.
15% of spontaneous abortions have
a 45,X0 Karyotype.

7. Genetic mechanisms

1. Absence of one copy of X chromosome.
Paternal loss in 62%
Maternal in 48%
2. Patient with Mosaic karyotype.
Ex. 46,XX/45,X
3. Structural rearrangement result in loss of
Xp material.
Ex. 46,iX(Xq)
4. Loss of the SHOX gene.
Variety of Turner syndrome.

8.

Mental retardation is rare, but many patients experience a reduction in
some perceptual possibilities and, as a result, low scores in nonverbal
tests and in mathematics, even though the scores obtained for the
verbal component of the intelligence tests are average or even high.
Growth retardation, often from birth (100%).
Gonadal dysgenesis with amenorrhea and sterility.
Lymphatic edema of the rear of the hands and feet (40%).
Broad chest with combined sternum deformity.
Widely placed, hypoplastic and inverted nipples (80%).
Anomalous in shape and protruding ears (80%).
Low level of hair growth.
Short neck with excess skin and pterygoid folds (80%).
Cubitus valgus (70%).
Narrow, hyper-concave and depressed nails (70%).
Congenital malformations of the kidneys (60%).
Hearing loss (50%).
Congenital heart and aortic defects (coarctation of the aorta and
valve pathology, enlargement and dissection of the aorta) (20-40%).
Idiopathic arterial hypertension (AH) (27%).

9. Symptoms of Shereshevsky-Turner syndrome

Many newborns have only very mild manifestations; but
some have marked dorsal lymphedema of the hands and
feet, as well as lymphedema or skin folds on the posterior
surface of the neck. Other common anomalies include the
pterygoid folds of the neck, the broad thorax and the
retracted nipples. The affected girls have a low growth rate
compared to family members. Less common signs are a low
line of hair growth on the back of the neck, ptosis, multiple
pigmented nevuses, short fourth metacarpal and
metatarsal bones, protruding pads of fingers with curls at
the ends of the fingers, and hypoplasia of the nails. Also
marked cubitus valgus (valgus deviation in the elbow joint).

10. 45, X0 – Turner syndromes

99% of cases
– aborted
Total fetal
hydrops
1 in 2,500 or
1 in 2,000
liveborn females.
normal intelligence;
may have 3D spatial problems
or math problems.

11. Phenotype

95% of adult with
Turner syndrome
exhibit short stature
and infertility.

12.

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.

13. Lymphedema

May be present at any age.
It is the cause of the webbed neck and low
posterior hairline.
In infants, the combination of dysplastic or
hypoplastic nails and lymphedema gives a
characteristic sausage-like appearance to the fingers and toes.

14. Prognosis

While most of the physical
findings in Turner syndro
me are harmless, there can
be significant medical pro
blems associated with the
syndrome.

15.

Should be considered in Individuals with :
Primary or secondary amenorrhea.
Adult women with unexplained infertility
Unexplained short stature.
Turner syndrome may be diagnosed prenatally by:
1. Amniocentesis.
2. Chorionic villous sampling.

16.

The clinical suspicion
Cytogenetic analysis
45,X.
45, X/46, XX.
46,XX,del(X)(P10).
FISH analysis.
Cytogenetic analysis of fibroblas
in case of normal karyotype 46,XX.

17.

18. 45, X0 – Turner syndromes

Short Stature (approximately 4 feet 8 inches) –;
loss of action SHOX gene on the X-chromosome.
treated by growth hormone
No ovarian function or early loss of function (in late
teens)
estrogen-progesterone treatment
to maintain secondary sexual development
Coarctation of the aorta (narrow aorta) 10-15%
Corrected surgically
Kidney problem (Horseshoe kidney) high blood
pressure