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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

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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

Females typically have 2 of the same sex chromosomes, written as XX

Males have an X and Y chromosome

Most instances are not inherited

Monosomy X - chromosomal abnormality is a random event during the formation of reproductive cells in the person’s parent

Nondisjunction (error in cell division) - can result in reproductive cells with an abnormal number of chromosomes (usually lacking)

Mosaicism- random event during the cell division stage in the early fetal development of the affected individual -> as a result, some of a person’s cells have the usual two sex chromosomes, while other cells contain only one copy of the X chromosome

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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

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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

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Treatment

Growth hormone

Estrogen and Progresterone Therapy

Supplemental Vitamin D and Calcium

Cyclic progestins

Cardiac surgery

Reproductive technologies

In-vitro Fertilization (IVF)

Counseling and Psychological Therapy

Learning Assistance and educational support

Prognosis

Life expectancy might be slightly shorter. But by testing for and treating health conditions that can come with TS, they can have a typical lifespan

Can have increased mortality rate, 3x greater than the general population

Cardiovascular disease (Aortic Aneurysm) - largest cause

Pneumonia

Diabetes

Epilepsy

Liver Disease

Kidney Disease

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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

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Local Resources and Contacts, Support Groups

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Local Resources and Contacts, Support Groups

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1. 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

2. 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

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Turner Syndrome Society of Canada. 2,036 likes · 9 talking about this. Official Facebook page of the Turner Syndrome Society of Canada. Providing a caring community in support of women & girls…

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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

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In Conclusion, Turner Syndrome is a condition we may come across during our clinical work and the duration of our professional careers. Knowing how this condition works and affects our clients is very important to give out the best point of care as possible. Knowing where our clients can seek help and support will also help them feel a sense of support and comfort while facing the challenges that come along with this condition.

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Turner syndrome - Symptoms & causes - Mayo Clinic. (2022, February 11). Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782

Turner Syndrome. (2025, February 12). Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome

Turner syndrome. (n.d.). Mount Sinai Health System. https://www.mountsinai.org/health-library/diseases-conditions/turner-syndrome

Shankar Kikkeri N, Nagalli S. Turner Syndrome. [Updated 2023 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK554621/ Turner syndrome - Symptoms & causes - Mayo Clinic. (2022, February 11). Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782

Turner Syndrome. (2025, February 12). Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome

Turner syndrome. (n.d.). Mount Sinai Health System. https://www.mountsinai.org/health-library/diseases-conditions/turner-syndrome

Shankar Kikkeri N, Nagalli S. Turner Syndrome. [Updated 2023 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK554621/