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- 1. TURNER SYNDROME HALA ESSAM MOHAMMED ID : 431205462
- 2. GENERAL INFORMATION Definition:Turner Syndrome is a chromosomal disorder that affects females, characterized by the partial or complete absence of one X chromosome. Incidence: Occurs in 1 in 2,000 to 2,500 live female births. Cause: Random error during cell division leading to monosomy (45, X) or mosaicism. Impact:Affects physical development and reproductive health.
- 3. CASE STUDY Patient:A 15-year-old female presenting with short stature and delayed puberty. History: No significant medical history. Normal developmental milestones until age 10. Symptoms: Lack of breast development, webbed neck, and lymphedema at birth. Family History: No similar conditions reported in family.
- 4. KARYOTYPE FINDINGS ASSOCIATED WITH TURNER SYNDROME Prenatal. In roughly 1% to 2% of conceptuses, the karyotype is 45,X. Ultrasound results for these fetuses usually show nuchal thickening or cystic hygroma. A child with a normal phenotype is born in the majority of cases where mosaicism occurs between a 45,X cell line and a cell line with a second structurally normal sex chromosome.4
- 5. CLINICAL DESCRIPTI ON Complete or partial absence of the second sex chromosome and distinctive physical characteristics are characteristics of Turner syndrome. Short stature, ovarian failure, edema of the hands or feet, nuchal folds, left- sided cardiac abnormalities, low hairline, low set ears, small mandible, cubitus valgus, nail hypoplasia, hyperconvex nails, multiple pigmented nevi, characteristic facies, short fourth metacarpal, and high arched palate are among the common phenotypic features, though they can vary greatly. Turner syndrome is typically not diagnosed in females who are small in stature and have deletions in the distal region of Xp, including the SHOX gene. Similarly, early ovarian failure is usually detected in people with Xq24 deletions who have primary or secondary amenorrhea but are not short in stature
- 6. SPECIAL TESTING CONSIDERATIONS In addition to karyotypic findings, phenotypic factors must be considered in a differential diagnosis that includes Turner syndrome. Since the phenotypic varies widely, a diagnosis cannot be made until laboratory and clinical criteria have been taken into account. Turner syndrome does not cause mental retardation. A ring X chromosome with loss of XIST gene function and specific X- autosome translocations are the only sex chromosomal structural abnormalities that are likely to result in mental retardation.
- 7. PRENATAL DIAGNOSIS Sometimes a diagnosis is made while the fetus is still developing. Certain characteristics on an ultrasound picture could make you suspect that your unborn child has Turner syndrome or another genetic disorder that affects fetal development. An elevated risk of Turner syndrome may also be indicated by prenatal screening procedures that analyze the baby's DNA in the mother's blood (prenatal cell-free fetal DNA screening or noninvasive prenatal screening). To confirm the diagnosis, a karyotype should be performed either during pregnancy or after birth.
- 8. DIAGNOSIS To rule out mosaicism and diagnose Turner syndrome, a standard 30-cell karyotype analysis is necessary. The presence of a 45,X cell line or a cell line with the short arm of the X chromosome deleted (Xp deletion) confirms the diagnosis.
- 9. DIAGNOSIS AY-centromeric probe should be used to check for the presence ofY chromosomal material in patients with Turner syndrome. Malignant gonadoblastomas or testicular tissue may be present in these patients.A comprehensive search for gonadal, adrenal, or midline malignancies is necessary when virilization is present. Individuals who have 45,X/46,XY mosaicism are at a significant risk of developing gonadoblastoma and may have mixed gonadal dysgenesis.To avoid dying of cancer, these patients could need a preventive gonadectomy.
- 10. DIAGNOS IS PCR For detection of Y-chromosomal material using PCR, a high rate of false-positive results has been reported. Thus, caution should be exercised in the interpretation of Y-chromosome sequence PCR. FISH confirmation using a Y centromere probe after a positive PCR result is prudent. Genomic copy number microarray studies can be used to further characterize abnormalities that are detected by cytogenetic studies. However, microarrays may not detect low-level mosaicism and should not be used as the initial screen for sex chromosome abnormalities.
- 11. METHODOLOGY OF MOLECULAR BIOLOGY Karyotyping: Standard technique to detect chromosomal abnormalities. Fluorescence In Situ Hybridization (FISH): Detects specific DNA sequences for confirming monosomy X. PCR Analysis: Identifies mosaicism or structural abnormalities in the X chromosome. Next-Generation Sequencing (NGS): Provides a detailed genomic analysis to rule out additional mutations.
- 12. TESTS HormonalTesting: Evaluates estrogen and gonadotropin levels (elevated FSH and LH). Ultrasound:Assesses ovarian development. Echocardiography: Checks for congenital heart defects, such as coarctation of the aorta. Bone Density Scan: Identifies osteoporosis risk due to estrogen deficiency.
- 13. TREATMENT Growth Hormone Therapy:Administered to improve height during childhood. Estrogen Replacement Therapy (ERT): Initiated during adolescence to induce puberty. Cardiovascular Monitoring: Regular check-ups for heart conditions. Fertility Options:Assisted reproductive technologies like egg donation for family planning.
- 14. CONCLUSION Turner Syndrome is a manageable condition with early intervention and appropriate therapies. Advances in molecular biology provide robust diagnostic tools. Multidisciplinary care ensures better quality of life for individuals with Turner Syndrome.
- 15. REFERENCES Gravholt, C. H., et al. (2017). Clinical Practice Guidelines for Turner Syndrome. Endocrine Society. National Organization for Rare Disorders (NORD). (2022).Turner Syndrome Overview. Sybert,V. P., & McCauley, E. (2004).Turner Syndrome. New England Journal of Medicine. American Society of Reproductive Medicine. (2021). Fertility Options for Turner Syndrome.
- 16. ThankYou