Turner syndrome physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akash Daswaney, M.B.B.S[2]

Overview

Physical examination may be suggestive of thyroid dysfunction, congenital heart defects, inflammatory bowel disease, characteristic skeletal deformities and body habitus/skin manifestations.

Physical Examination

Appearance of the Patient

• Patient may show signs of poor growth velocity and malnutrition indicative of failure to thrive.
• Patients may be hyperactive.
• The presence of short stature, a webbed neck, pigmented nevi, puffiness of the hands and feet, a cubitus valgus deformity, genu valgum on physical examination are highly suggestive of Turner syndrome.

Vital Signs

• High-grade / low-grade fever
• Hypothermia / hyperthermia may be present
• Tachycardia with regular pulse or irregularly irregular pulse - Hyperthyroidism
• Bradycardia with regular pulse or irregularly irregular pulse - Hypothyroidism
• Tachypnea - Secondary to Acute pulmonary edema from ischemic heart disease
• Hypertension in the upper extremities with hypotension in the lower extremities, decreased post ductal oxygen saturation in the lower extremities, absent lower extremity pulses - Coarctation of aorta
• Widened pulse pressure + water hammer pulse - Aortic Regurgitation secondary to aortic dissection

Skin

• Lymphedema of hands and feet
• Toe nail cellulitis
• Vitiligo
• Alopecia
• Nail hypoplasia
• Psoriasis - silver scaled erythrematous plaques present on extensor surfaces
• Pigmented melanocytic nevi - avoid rubbing against clothes.
• Hyperconvex nails
• Oslers nodes, Jane way lesions - Infective Endocarditis

HEENT

Neck

• Pterygium colli
• Low posterior hair line
• Loose skin on the nape of newborns

Ear

• Weber test may be abnormal- Conductive hearing loss or sensorineural hearing loss
• Rinne test may be positive - Conductive hearing loss or sensorineural hearing loss
• External ear canal deformities may be noted.

Eye

1. Prominent epicanthal folds
2. Bilateral epicanthus
3. Strabismus
4. Ptosis
5. Cataract
6. Nystagmus
7. Roth spots - secondary to infective endocarditis

Neck

• Pterygium colli
• Low posterior hair line
• Loose skin on the nape of newborns
• Jugular venous distension - Rule out Eisenmengirsation secondary to congenital heart defects, pressure may be transmitted to the internal ugular vein.
• Hepatojugular reflux - There is an increased risk of ischemic heart disease and cardiomyopathy secondary to this may cause Right sided heart failure.

Lungs

• Pulmonary examination of patients with Turner syndrome is usually normal.
• Fine/coarse crackles upon auscultation of the lung bases/apices unilaterally/bilaterally (rule out)

Heart

• Patient has a wide shield shaped chest with inverted nipples.
• S3 (rule out)
• S4 (rule out)
• Gallops (rule out)
• A pansystolic murmur heard over the tricuspid area - Ventricular Septal defect
• Early blowing diastolic murmur head over the left upper sternal border - Aortic regurgutation secondary to aortic dissection
• Systolic ejection click followed by a crescendo decrescendo murmur (early P2 and delayed A2) - Early onset aortic stenosis secondary to a bicuspid aortic valve
• Fever + Petechiae + Heart murmur - Infective Endocarditis

Abdomen

• Look for signs of inflammatory bowel disease such as fistulas, skin tags and oral aphtous ulcers

Back

• Kyphosis
• Scoliosis

Genitourinary

• Chronic estrogen deficiency may lead to signs of atrophic vaginitis
• Rudimentary uterus
• Palpable mass secondary to dysgerminoma or gonadoblastoma

Neuromuscular

• Neuromuscular examination of patients with Turner syndrome is usually normal.

Extremities

• Shortened limbs
• Shortened 4th metacarpal
• Cubitus valgus deformity
• Madelung deformity
• Cyanosis - Secondary to structural heart defects
• Pitting edema of the upper/lower extremities - Hypothyroidism
• Muscle atrophy

References

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