turners syndrome

By

Linda, Kianna, and Krystal

AgendaDefinitionHistoryDiagnosisSymptomsTreatmentPatientsResearchQuestionsResourcesEnding Comments

History

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

Definition

What is Tuner’s Syndrome? A genetic disorder in girls caused by a missing

or defective X (female) chromosome.

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.

DiagnosisAmniocentesis 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 ChestUltrasound of reproductive organs and kidneys Pelvic Exam

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

TreatmentHuman Growth Hormone Estrogen Progesterone

- Sex Functions are normal -

Infertility Adopt ChildrenIn Vitro-FertilizationSome may have Children (rare cases)

PatientsSuggestions 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.

PatientsConsider 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.

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

Research Dry Eye in Women With Turner Syndrome and Women With

Premature Ovarian Failure Conditions: Turner Syndrome;   Ovarian Failure, Premature;   Sex Chromosome Aberrations;   Menopause;   Perimenopause

Sex Differences in Early Brain Development; Brain Development in Turner Syndrome Condition: Turner Syndrome

Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Condition: Turner Syndrome Intervention: Drug: Somatropin

Resourceswww.turnersyndrome.orgwww.nlm.nih.gov/medlineplus/

turnersyndrome.htmlnichd.nih.gov

Questions?

Ending Comments There are positive outcomes.

http://www.youtube.com/watch?v=56ujy218Kag

Quiz Definition?Diagnosis?Symptoms?Treatment?

The End