Turner syndrome is a genetic condition that affects development in girls caused by a missing or partial X chromosome. It was first described in 1938 by Dr. Henry Turner. Common characteristics include short stature, ovarian dysfunction leading to infertility, and heart defects. Diagnosis involves chromosome analysis from amniocentesis or blood tests. Treatment may include growth hormone, estrogen therapy, and assisted reproduction. Research continues on treatments and managing associated health problems throughout life.

1. By
Linda, Kianna, and Krystal

2. Agenda
 Definition
 History
 Diagnosis
 Symptoms
 Treatment
 Patients
 Research
 Questions
 Resources
 Ending Comments

3. History

4. History
 Named after Henry Turner, the endocrinologist who
described this condition in 1938.
 He described 7 patients between the ages of 15 and 23, who
were referred to him for dwarfism and lack of sexual
development

5. Definition

6. What is Tuner’s Syndrome?
A g ne d o e in g c us db am s o d fe tive
e tic is rd r irls a e y is ing r e c
X (fe a ) c m s m .
m le hro o o e

7. How does it Occur?
 The human cells have 22 pairs of chromosomes and 1
pair of sex chromosomes (called X &Y). A female
usually has XX chromosomes whereas a male has XY
chromosomes.
 These sex chromosomes determine the gender of a
person, the height as well as development of sexual
organs.
 During mitosis only one X chromosome transfers to
the egg for a female baby.

8. Diagnosis
 Amniocentesis the prenatal diagnosis of chromosomal
abnormalities during pregnancy.
 Chromosome analysis.
 Finding the specific chromosome problem of the syndrome is
the only definitive diagnosis.
 Learning problems that lead to difficulty with math and spatial
relationships between objects.
 Blood Hormone levels
 Echocardiogram (heart ultrasound)
 MRI of Chest
 Ultrasound of reproductive organs and kidneys
 Pelvic Exam

10. Symptoms
 short stature (affects almost all girls with Turner, to different degrees)
 failure of ovaries to develop (90-95% of girls)
 webbed neck (25%) or short neck (40%)
 abnormal fingernails and toenails (70%)
 low hairline at neck (40%)
 heart defect (30%)
 kidney or urinary tract defect (30%)
 hearing disorders (50-90%)
 frequent ear infections in childhood (75%)
 shortening of bones in the hands (35%)
 lower jaw smaller than normal (60%)
 drooping eyelids (ptosis), wandering eyes (strasbismus)
Women with Turner syndrome are more likely to develop high blood
pressure, diabetes and thyroid disorders

13. Treatment
 Hum n Gro th Ho o
a w rm ne
 Es g n
tro e
 P g s ro
ro e te ne
 - Se Func nsa no a -
x tio re rm l

15. Infertility
 Adopt Children
 In Vitro-Fertilization
 Some may have Children (rare cases)

17. Patients
 Suggestions that can help you cope:
 Join a support group for girls with Turner syndrome.
 Ask your doctor or parents for more information.
 Stay active in sports or hobbies that you enjoy.
 Consider doing volunteer work. Helping other people can
boost your self-esteem and your confidence, too.

18. Patients
 Consider talking to a professional therapist. A qualified
counselor or other mental health professional can help you
build your self-esteem and address your concerns about living
with Turner syndrome.
 Discuss this with your parents if you think you might need
help.
 Keep a journal or diary in which you can record your thoughts
and feelings about the challenges you're dealing with.
 Talk to school counselors if you are having problems at school.

20. Research
 Growth Hormone Treatment of Women With Turner Syndrome
Condition: Turner Syndrome Interventions:
Drug: Growth Hormone; Drug: Placebo;
Other: Healthy controls
 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
Conditions: Turner Syndrome; Hypogonadism;
Premature Ovarian Failure
Interventions: Drug: 17 B estradiol orally; Drug: 17 B estradiol

21. Research
 Dry Eye in Women With Turner Syndrome and Women With Prema
Conditions: Turner Syndrome; Ovarian Failure, Premature;
Sex Chromosome Aberrations; Menopause; Perimenopause
 Sex Differences in Early Brain Development; Brain Development in
Condition: Turner Syndrome
 Long-Term Growth and Skeletal Effects of Early Growth Hormone T
Condition: Turner Syndrome Intervention: Drug: Somatropin

22. Resources
w ww .turne ynd m .o
rs ro e rg
w ww .nlm .nih.g v/m d p /turne ynd m .htm
o e line lus rs ro e l
 nic .nih.g v
hd o

23. Questions?

24. Ending Comments
 The a p s
re re o itiveo o e .
utc m s
http://www.youtube.com/watch?v=56ujy218Kag

25. Quiz
 Definition?
 Diagnosis?
 Symptoms?
 Treatment?

26. The End