TURNER SYNDROME TURNER SYNDROME

 A condition that affects only females.
 is considered a rare condition, estimated to occur in about 1 of every
2,000 to 2,500 female births.
 96-98% do not survive to birth.
 Named after Henry Turner, the American endocrinologist who first
described the syndrome in 1938.
 Referred to as Ullrich-Turner syndrome or gonadal dysgenesis.
 A condition that affects only females.
 is considered a rare condition, estimated to occur in about 1 of every
2,000 to 2,500 female births.
 96-98% do not survive to birth.
 Named after Henry Turner, the American endocrinologist who first
described the syndrome in 1938.
 Referred to as Ullrich-Turner syndrome or gonadal dysgenesis.

Two types of Turner Syndrome: Two types of Turner Syndrome:

 Classical Turner Syndrome – an X chromosome is completely missing.  Classical Turner Syndrome – an X chromosome is completely missing.
Affects half of all people with Turner Syndrome. Affects half of all people with Turner Syndrome.
 Mosaic Turner Syndrome (Turner mosaicism) - the abnormalities occur  Mosaic Turner Syndrome (Turner mosaicism) - the abnormalities occur
only in the X chromosome of some of the body's cells. only in the X chromosome of some of the body's cells.

Common Symptoms : Common Symptoms :

• short stature • Low hairline at the back of the head • short stature • Low hairline at the back of the head
• fold of skin on neck • underdeveloped breasts • fold of skin on neck • underdeveloped breasts
• shield-shaped thorax • elbow deformity • shield-shaped thorax • elbow deformity
• rudimentary ovaries • brown spots (nevi) on skin • rudimentary ovaries • brown spots (nevi) on skin
• no hips • broad shoulders and neck • no hips • broad shoulders and neck
• heart problem • heart problem
• Short fingers and toes and small finger nails • Short fingers and toes and small finger nails
• Delayed sexual development during teenage years • Delayed sexual development during teenage years
• Early end to menstrual cycles not due to pregnancy • Early end to menstrual cycles not due to pregnancy
• Can’t become pregnant without fertility treatment. • Can’t become pregnant without fertility treatment.

Cause : Cause :
Results when one of the X chromosomes (sex chromosomes) is missing or Results when one of the X chromosomes (sex chromosomes) is missing or
partially missing or structurally altered. The missing genetic material affects partially missing or structurally altered. The missing genetic material affects
development before and after birth. Turner syndrome are NOT inherited. development before and after birth. Turner syndrome are NOT inherited.

Complications :
• Heart problems
• Hearing loss
• Kidney problems
• Skeletal problems
• Mental health issues
• Pregnancy complications
Complications :
• High blood pressure • Heart problems
• Vision problems • Hearing loss
• Autoimmune disorders • Kidney problems
• Learning disabilities • Skeletal problems
• Infertility • Mental health issues
• Pregnancy complications
• High blood pressure
• Vision problems
• Autoimmune disorders
• Learning disabilities
• Infertility

Treatment : Treatment :
• Growth hormone therapy • Growth hormone therapy
• Estrogen therapy • Estrogen therapy
• Pregnancy and fertility treatment • Pregnancy and fertility treatment
Prepared by: Group Turner Prepared by: Group Turner