TURNER SYNDROM and causes any type sign symptoms

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1. Turner Syndrome Dr. Nazia Shuaib

2. Objectives At the end of this lecture the learner will be able to; Define turner syndrome Explain the genetic alteration of TS Enlist the causes of turner syndrome Discuss the symptoms of TS Diagnosis and treatment of TS 2

3. Turner syndrome Turner Syndrome is a medical condition named after the American physician, Dr. Turner, who in 1938 first fully described the condition. Turner Syndrome affects only women. It is caused by a total or partial absence of one of the X chromosomes in some or all body cells. Turners Syndrome affects around 1 in 2500 live female births. 3

4. Referred to as Monosomy X An abnormal genetic condition resulting from a defect on or absence of the second sex chromosome 4 Cont…

5. Female is missing an X-chromosome 5 What’s the defect

6. The genetic alterations of Turner syndrome 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. This results in every cell in the body having only one X chromosome. 6

7. The genetic alterations of Turner syndrome Mosaicism .  In some cases, 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.

8. Cont… X chromosome abnormalities.  Abnormal or missing parts of one of the X chromosomes can occur. Cells have one complete and one altered copy. This error can occur in the sperm or egg with all cells having one complete and one altered copy. Or the error can occur in cell division in early fetal development so that only some cells contain the abnormal or missing parts of one of the X chromosomes ( mosaicism ).

9. Cont… Y chromosome material.  In a small percentage of Turner syndrome cases, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as female, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma .

10. The female is born without the second X chromosome "45X” meaning that an individual has 44 autosomes and a single X chromosome Multiple blood cells are required to be tested because some cells may carry an X monosomy while others may not. 11 Autosomes: Any chromosome that is not a sex chromosome. Causes

11. Type of Disorder Chromosomal condition Turner’s syndrome is neither recessive or dominant, it’s a condition that causes infertility and immature sexual development in women, it is due to the possession of only one X chromosome, instead of the two always present in normal women. 12

12. 13 Karyotype: The number and visual appearance of the chromosomes in the cell nuclei of an organism or species.

13. 14 Normally, females inherit one X chromosome from their mother and one X chromosome from their father. But females who have Turner syndrome are missing one of their X chromosomes . Turner syndrome is typically caused by what is called non-disjunction. If a pair of sex chromosomes fails to separate during the formation of an egg (or sperm), this is referred to as non-disjunction. How does it happen

14. How does it happen When an abnormal egg unites with a normal sperm to form an embryo, that embryo may end up missing one of the sex chromosomes (X rather than XX). As the embryo grows and the cells divide, every cell of the baby's body will be missing one of the X chromosomes.

15. Non – Disjunction 16 The failure of homologous chromosomes to separate normally during nuclear division.

16. Cont… 17 When sperm with no X chromosome unites with a normal egg to form an embryo, that embryo will have just one X chromosome (X rather than XX) As the embryo grows and the cells divide, the X chromosome will be missing from every cell of the baby’s body

17. Cont… Researchers have not determined which genes on the X chromosome are associated with most of the features of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. The loss of one copy of this gene likely causes short stature and skeletal abnormalities in women with turner syndrome. 18

18. 19 Turner’s Syndrome baby

19. 20

20. Shorter than average/slow growth rate No growth spurts during puberty Non-functioning ovaries No production of estrogen or progesterone Infertility Middle Ear infections leading to ultimate loss of hearing Problems with math, memory skills, and fine-finger movements Discolored spots on skin 21 Symptoms

21. Wide/webbed neck Low hairline Broad chest/widely spaced nipples Arms turned out at elbows Heart murmur due to narrowing of aorta High blood pressure Minor vision issues Scoliosis Osteoporosis (thinning of bones) due to lack of estrogen 22 Cont…

22. Short stature (Usually no taller than 4’8”) Obese weight (due to an underactive thyroid) Drooping eyelids Problems with breast development Short fingers and toes Extra skin on the neck (webbed neck) Swelling of the hands and feet Low set ears Soft nails that turn upward at the ends Irregular rotation of wrist and elbow joints 23 Physical Symptoms

23. Loss of ovarian functions (infertility) Heart defects Kidney problems Visual impairments Ear infections and hearing loss High blood pressure Weak bones 24 Internal Symptoms

24. Range of intellectual development usually normal However, they seem to have difficulty with specific skills Learning disabilities Especially in math Behavioral problems Problems with concentrating and remembering 25 Maternal Symptoms

25. Women can be amniotic fluid tested while pregnant If the test returns back to be positive, genetic counseling is recommended A simple blood test karyotype can determine the diagnosis Usually diagnosed during infancy but can be diagnosed later in life. 26 Diagnosis

26. Complication Heart problems. High blood pressure Hearing loss Vision problems Kidney problems Autoimmune disorders Skeletal problems Learning disabilities Infertility 27

27. Women with Turner’s Syndrome lead typical lives Have normal family relations Often bullied when young due to appearance 28 Aggressive behavior Effect on life

28. No cure for Turner’s Syndrome Are certain treatments to help with the symptoms Growth hormone therapy Estrogen/progesterone replacement Close heart monitoring for heart problems. 29 Treatment /Cure

29. We are all people and we are all different in our own ways. Just because some of us may look or act different in your eyes does not give you the excuse to make fun of them. Respect everyone for their differences 30 Remember ….

30. References "Turner Syndrome Causes, Symptoms, Diagnosis, and Treatment on MedicineNet.com." Web. 10 Apr. 2011. http://www.medicinenet.com/turner_syndrome/article.htm. "YouTube - Turner's Syndrome and Me." YouTube - Broadcast Yourself. Web. 10 Apr. 2011. http://www.youtube.com/watch?v=FPPbNwvEYg8. "MGA2-11-14_Turner." Memorial University . Web. 10 Apr. 2011. http://www.mun.ca/biology/scarr/MGA2-11-14_Turner.html. "Turner Syndrome." KidsHealth - the Web's Most Visited Site about Children's Health . Web. 10 Apr. 2011. http://kidshealth.org/teen/diseases_conditions/sexual_health/turner.html. Turner Syndrome Society of the US - Welcome . Web. 10 Apr. 2011. http://www.turnersyndrome.org/. 31