Transcript Turner Syndrome Lily Ou What is it?

Turner Syndrome
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What is it?
• Absence or incompletion of the X chromosome
• Chromosomal abnormality
• The affected genes are the ones involved in growth and
sexual development
• Occurs in every 2500-3000 females
• Affects female only
• Not an inherited disease
Causes
• Nondisjunction
• Chromosomes fail to separate properly during
meiosis and results in an imbalance of chromosomes
• Turner syndrome is monosomy condition; it is the
only full monosomy that isn’t completely lethal
•Absence of SHOX gene which is responsible for bone
development and growth
•Causing short structure and skeletal abnormalities
Causes
• X chromosome defects
• deletion
• fragmented
• structural problems
 ring formations
that prevent gene
expression (20%)
types
1. Classical turner syndrome (50-60%)
• Absence of X chromosome in all cells
• Nondisjunction during meiosis
2. Mosaic turner syndrome (30%)
• Absence of X chromosomes in some cells
• Random event during cell division in early
fetal development
Diagnosis
1. Amniocentesis
2. Chorionic villus sampling （CVS)
3. Abnormal ultrasound findings
4. Karyotype analysis after birth
Symptoms
• Short body
• Webbed neck
• Low-set ears
• Gonadal dysfunction
• Infertility
•No menstruation due to
the lack of development
of ovaries
• Inactive thyroid gland
•A lot of moles
• Broad, shield shaped
chest
• Feet and hand swelling
• Hyper activity
• Smaller hips
• Poor breast development
• Overweight
• Small and soft fingernails
• Dry eyes and vagina
• No sexual changes in
puberty
Complications
•Heart and Kidney Problems (horse
shape)
•Heart murmur or narrow aorta
•Middle ear infections
•High blood pressure
•Osteoporosis
•Scoliosis
•Gastrointestinal bleeding
•Learning disabilities
Treatments
• Pediatric endocrinologist
• Growth hormone injections
• Estrogen replacement therapy
• Reproductive technology
• Surgery
• Regular screening
•http://genetics.emedtv.com/turnersyndrome/treatments-for-turner-syndrome.html
•http://www.medicinenet.com/turner_syndrome/article.
htm
•http://www.genome.gov/19519119#al-3
•http://www.mayoclinic.com/health/turnersyndrome/DS01017/DSECTION=symptoms
•http://www.nhs.uk/Conditions/Turnerssyndrome/Pages/Symptoms.aspx