Turner Syndrome

Question 1

Name 3 abnormalities of the CVS in a patient with TS

Answer 1

a) Bicuspid Aortic Valve
b) Coarctation of the aorta
c) Systemic Hypertension
d) Prolonged QTc Syndrome
e) Partial anomalous pulmonary venous connection
f) Persistent left SVC

Question 2

Name 2 abnormalities of the Eye in a patient with TS

Answer 2

a) Inner canthal folds
b) Ptosis
c) Blue Sclera

Question 3

Name 2 abnormalities of the Skeletal System in a patient with TS

Answer 3

a) Cubitus Valgus
b) Short 4th metacarpal
c) Short Stature
d) madelung deformity
e) scoliosis

Question 4

Name 2 abnormalities of the Ear in a patient with TS

Answer 4

a) Sensorineural hearing loss
b) Conductive hearing loss
c) Chronic Otitis Media
d) prominent auricles, low-set

Question 5

6. Name 2 abnormalities of the Neck in a patient with TS

Answer 5

a) Web Neck
b) Low Hairline
c) Cystic Hygroma

Question 6

Name 2 learning abnormalities in a patient with TS

Answer 6

a) Difficulty in Math
b) Visual Spatial Skills
c) Low Non Verbal Scores

Question 7

Name 2 abnormalities of the Cest

Answer 7

under-developed breasts with widely spaced nipples, pectus excavatum,

Question 8

Challenges across lifespan

Answer 8

Infertility, short stature, sexual development, concerns regarding health & aging

Question 9

Common pitfalls in medical culture

Answer 9

Secret keeping
Difficulty communicating an infertility diagnosis
Perceived negative experiences with physicians

Question 10

Neonatal diagnosis of Turner’s Syndrome is most often accompanied by anomalies in which organ?

Answer 10

Heart
neonatal Turner’s presentation is accompanied by a characteristic heart abnormality (bicuspid aortic valve is most common, so is coarctation of the aorta).

Question 11

When should patient’s with Turner’s syndrome be transitioned to an adult primary care doctor and adult specialists?

Answer 11

during adolescence