1. Turner Syndrome
Erica Simi 3/26/10

2. Turner Syndrome
Described in 1938 by Dr. Henry Turner (endocrinologist)
Noted common physical features in female patients
Resulted that it is a chromosomal abnormality

3. Turner Syndrome A genetic condition when a female does not have
the usual pair of two X chromosomes. It is a
chromosomal condition
that affects the
development in females.
It cannot be passed
to future generations.

4. Causes Cells are missing all or part of an X chromosome
Female only has one X chromosome (monosomy X), or two X chromosomes but one is structurally altered (mosaicism)
SHOX gene
Occurs in about 1 out of 2,000 births

5. Phenotypic Effects Webbed neck/wide neck Swollen hands/feet
Incomplete or absent development
at puberty
Broad, flat chest
Dry eyes
Drooping eyelids
Infertility (no ovulation)
Short height
Low hairline
Elbow deformity
Skeletal abnormalities

6. Diagnosis & Tests Any stage of life
Can be diagnosed before birth (chromosome analysis)
Phyiscal exam with signs of underdevelopment
Blood hormone levels
Echocardiogram
Karyotyping
MRI of the chest
Ultrasound of reproductive organs
Pelvic exam

7. Treatment
Growth hormone
Estrogen replacement therapy
Donor egg

8. Works Cited
"Turner Syndrome." Genetics Home Reference. Web. 25 Mar <
"Turner Syndrome." Google Health. Web. 25 Mar <
"Turner Syndrome." Kids Health. Web. 25 Mar <
"Turner Syndrome." Learn.Genetics. Web. 25 Mar <
Turner Syndrome. Photograph. By Lizzy Rosenblatt.