Congenital condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing

Named after Dr. Henry Turner, physician who first described the genetic condition in medical literature in 1938

Typical number of human chromosomes is 46. Chromosomes contain all of your genes and DNA (building blocks of the body). Two of these chromosomes (sex chromosomes) determine if you become a boy or a girl 

sometimes difficult to distinguish

can be diagnosed at any stage of life

may be diagnosed before birth if: chromosome analysis, cystic hygroma are done

blood hormone levels (LH, estrogen, FSH)

echocardiogram

karyotyping

MRI of chest

ultrasound of reproductive organs and kidneys

pelvic exam

loss or alteration of the X chromosomes occur randomly, not associated with prenatal age, no known toxins or environmental factors that appear to affect the risk

having one child with TS does not increase the risk of having other children with the condition

only females are affected, regardless of ethnicity or location

Patients with Turner Syndrome have a Patients with Turner Syndrome have a lot of comorbidities and require a multidisciplinary team, thus as an RA, we must monitor them closely throughout the lifespan as they need frequent screening. 

Address associated problems with Turner Syndrome.

Help cope with environment through training and rehabilitation to address physical problems, sensorimotor, perceptual, coordination problems during the developmental process

Occupational Therapy can help develop functional skills such as ADLs, school, and fine motor skills

Physical Therapy can improve cardiovascular endurance and health if they have cardiac defects

Provide resources and support groups for individuals and their families as they grow into adolescence

Turner Syndrome Society of Canada

• https://www.facebook.com/TurnerSyndromeSocietyOfCanada/

• Members exchange information and provide mutual aid regarding TS

• c/o Vancouver Chapter, TSS, 302-2268 Redbud Lane.
  Vancouver, BC V6K 4S6

Turner Syndrome Program

• provide multi-disciplinary care to adult women with Turner Syndrome and we ensure that all Turner specific screening and care are delivered. 

• Women’s College Hospital

  76 Grenville Street

  Floor 5

  Toronto, ON M5S 1B2

  
  

  Phone: 416-323-7744

  Fax: 416-323-6237

  Referral Fax: 416-323-6330 – Access Centre

  
  

  Hours of Service

  Two half-day clinics per month

1 in 2000 to 1 in 2500 female babies (rare). There are likely 6000 people with TS in Canada 

Most common sex chromosome-related condition that affects infant girls