Слайд 2: Plan
1. History 2. Frequency 3. Genetic mechanisms 4. Symptoms of Shereshevsky -Turner syndrome 4. Phenotip 5. Diagnosis 6. Videoclip
45 X Karyotype syndrome. Bonnevie-Ullrich syndrome. Gonadal dysgenesis. Monosomy X. Synonyms and related keywords
History The syndrome is named after Henry Turner, an Oklahoma endocrinologist, who described it in 1938. [ Turner HH. (1938). A syndrome of infantilism, congenital webbed neck, and cubitus valgus. "Endocrinology". 23 :566-574. ] In Europe, it is often called Ullrich -Turner syndrome or even Bonnevie - Ullrich -Turner syndrome to acknowledge that earlier cases had also been described by European doctors.The first published report of a female with a 45,X karyotype was in 1959 by Dr. Charles Ford and colleagues in Harwell, Oxfordshire and Guy's Hospital in London
Слайд 5: Incidence
Approximately 98% of all fetuses with Turner syndrome result in miscarriage. Turner syndrome accounts for about 10% of the total number of spontaneous abortions in the United States. The incidence of Turner syndrome in live female births is believed to be 1 in 2500.
1 in 2,000 live-born female infants. 15% of spontaneous abortions have a 45,X0 Karyotype. Frequency
Слайд 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.
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%).
Слайд 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).
Слайд 10: 45, X0 – Turner syndromes
Total fetal hydrops normal intelligence; may have 3D spatial problems or math problems. 99% of cases – aborted 1 in 2,500 or 1 in 2,000 liveborn females.
Слайд 11: Phenotype
95% of adult with Turner syndrome exhibit short stature and infertility.
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. Infertility
Слайд 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.
Слайд 14: Prognosis
While most of the physical findings in Turner syndrome are harmless, there can be significant medical problems associated with the syndrome.
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. Diagnosis
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. Diagnosis
Слайд 18: 45, X0 – Turner syndromes
Short Stature (approximately 4 feet 8 inches) –; loss of action SHOX gene on the X-chromosome. No ovarian function or early loss of function (in late teens) Coarctation of the aorta (narrow aorta) 10-15% Kidney problem (Horseshoe kidney) high blood pressure treated by growth hormone estrogen-progesterone treatment to maintain secondary sexual development Corrected surgically