Turner Syndrome Vignette

Question 1

Recognize the clinical presentation of patients with Turner Syndrome

Answer 1

• Short stature
• Rudimentary ovaries
• Dysmorphic features
• Cardiovascular System
• Bony Abnormalities
• Urinary system
• Vision and Hearing
• Autoimmunity

Question 2

Dysmorphic features

Answer 2

o	Lymphedema of hands and feet at birth
o	Webbed neck
o	Low posterior hairline 
o	Broad chest with widely spaced nipples
o	Poor breast development
o	Inner canthal folds
o	Ptosis
o	Blue sclera
o	Prominent auricles that are low set
o	Small mandible
o	Narrow, highly arched palate
o	Small fingernails

Question 3

Cardiovascular system

Answer 3

o Cystic hygromas (lymph filled cysts, usually in posterior triangle of neck)
o Bicuspid aortic valve
o Coarctation of aorta (narrowing, ballooning inwards of aorta)
o Abnormal pulmonary venous connections
o Persistent left superior vena cava
o Dilation of aorta and other major vessels
o Electrocardiographic abnormalities
o Systematic hypertension

Question 4

Bony Abnormalities

Answer 4

o Cubitus valgus (increased carrying angle at elbows)
o Genu valgum
o Short 4th metacarpal
o Madelung deformity (deformity of radius resulting in subluxation of wrist)
o Scoliosis

Question 5

Urinary system

Answer 5

o Kidney anomalies (either structural or positional)

Question 6

Vision and Hearing

Answer 6

o	Hyperopia (farsightedness)
o	Strabismus (lazy eye)
o	Hearing loss
---Conductive hearing loss
---Sensoneurial hearing loss

Question 7

Autoimmunity

Answer 7

o Celiac disease

o Thyroid dysfunction

Question 8

Enumerate challenges across the lifespan in patients with Turner Syndrome

Answer 8

Infertility, short stature, sexual development, and concerns regarding health and aging are issues that have been identified as important to this population.

Question 9

Identify pitfalls of the medical culture in dealing with patients with Turner Syndrome (3)

Answer 9

1. Physicians have a tendency to keep secrets regarding either the diagnosis of Turner’s Syndrome or elements of the disease process.
2. physician’s difficulty communicating a diagnosis of infertility in a compassionate manner.
3. patients’ feelings of dissatisfaction with doctors.