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Turner Syndrome


Stephanie Urra

on 28 February 2013

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Transcript of Turner Syndrome

Turner Syndrome Symptoms Vanessa Sivilli
Stephanie Urra Turner syndrome is a chromosomal condition caused by an absent or incomplete 2nd sex chromosome.
Only affects females
It is a sex chromosome disease not an autosomal disease like Down syndrome Growth hormone to increase height These test consist of blood tests which include a yearly check of thyroid function, liver function, fasting cholesterol and sugar levels. When Turner syndrome is diagnosed from childhood into adulthood a renal ultrasound is usually done to assess for abnormalities with the kidneys and urinary tract.

Horseshoe kidney

Abnormal position

Double collecting system

UTI other tests involve vision, hearing, teeth and kidneys. Other Symptoms and Characteristics of
Turner Syndrome Renal abnormalities 30% Hearing loss Malformation and low set ears Speech problems Dental abnormalities One in every 2,500 females born. Cure? Monosomy X
All of the cells in the body are missing one copy of the 2 X chromosomes of the females sex chromosome
Caused by an error in cell division of either the egg or the sperm
Random event
Accounts for half of Tuner Syndrome patients Mosaicism
Some of the cells in the body are missing one of the 2 X chromosomes
Caused by error in cell division in fetal development
Random event Incomplete X Chromosome
Varying degrees of completeness of the X chromosome
Degrees of completeness correlate with degree of symptoms Diagnosis in Utero

Chorionic villus sampling
Cystic hygroma
Increased nuchal translucency
Fetal hydrops
Cardiac defects Increased Nuchal Translucency

Larger than normal measurement (>3mm) of the space at the back side of the neck
Measured between 11-14 weeks Cystic Hygroma

Lymphatic swelling or a moist tumor. It is not always at the back of the neck Fetal Hydrops/Lymphadema

Abnormal accumulation of serous fluid in skin (edema) and body cavities

Fluid is not properly transported around the organs of the body, excess fluid leaks into the surrounding tissue, resulting in swelling Cardiac defects

Coarctation of aorta 44% Average ht 4'8" Hypertension Lymphedema
Edema of hands and feet Learning disability related to depth and spatial perception NO Treatment? YES Estrogen replacement puberty menopause

Breast development
Proper bone development High risk for Celiac disease Toxic reaction to gluten Low dose androgens

Hair growth
Muscle growth Who does it affect The syndrome was first described in 1938 by Dr. Henry Turner, an Oklahoma endocrinologist 15 of 1000 fetuses from recognized pregnancies have Turner syndrome

99% of these pregnancies end in a first trimester miscarriage

71,000 with Turner syndrome in the USA Webbed neck Cystic Hygroma Types of Turner Syndromes Lymphedema

Seen at birth usually resolves itself by 2 years of age.

Can occur or reoccur at any age Hypothyroidism Hypothyroidism

Body tries to destroy thyroid cells as if
they were foreign

20% of Turner syndrome women

Upon T.S. diagnosis Thyroid is checked
and every 2 years after Quiz A missing or incomplete X chromosome
in the sex chromosomes Cystic hygroma
Increased nuchal translucency
Fetal hydrops/lymphadema
Cardiac defects Short
Low hairline
Small nails
Webbed neck
Constriction of Aorta
Poor breast development
Elbow deformity
Rudimentary ovaries
No period
Renal problems
Hearing problems
Dental problems
Speech problems
Malformed and low set ears
Cystic Hygroma
Depth perception problems
Celiac disease Name a characteristic seen on
ultrasound that helps diagnose
Turner syndrome in utero. Name a symptom of Turner
What causes Turner syndrome? References

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