Turner syndrome

Turner syndrome is characterised by gonadal dysgenesis and short stature. The diagnosis is confirmed by the karyotype 45 XO.

General examination

To diagnose Turner's syndrome a detailed and full general examination is mandatory in the initial assessment of all patients.

Patients with Turner's syndrome may have a short, webbed neck, low hairline at the back of the head and low set ears. Multiple moles or naevi, hearing problems, high arched palate, micrognathia and myopia may all be detected in some patients with Turner's syndrome.

Height, weight, arm span and BMI

In children and young adults it is useful to plot growth against standardised charts to aid pubertal staging.

Patients with Turner’s syndrome and pseudopseudohypoparathyroidism tend to have short stature. Patients with paediatric Cushing's may also present with short stature, obesity and abnormal sexual development.

Arms, carrying angles, hands and feet

Cubitus valgus - increased carrying angles - tend to occur in Turner’s syndrome.

Shortened metacarpals and metatarsals may be seen in Turner's syndrome and pseudopseudohypoparathyroidism. Lymphoedema of the hands and feet may also be present in Turner's syndrome, as can abnormalities of the nails, being small, spoon shaped or hyperconvex.

Examine for mirror movements

Synkinesis, or mirror movements, occur in Kallman's syndrome.

Ask the patient to pinch first finger and thumb together repeatedly with one hand and watch to determine whether action is mirrored in other hand.

Palate and teeth

Dental hypoplasia and mal-alignment may occur with Kalmann’s syndrome. High arched palate and micrognathia may occur with Turner's syndrome.

Olfactory and auditory nerves

Anosmia should be assessed formally where possible as this symptom may not be reported by the patient.

Deafness may occur in various congenital conditions and has an increased incidence in Turner’s syndrome.

Blood pressure

This should be assessed in both upper and lower limbs to screen for coarctation of the aorta in Turner’s syndrome.

Cardiovascular examination

This should be assessed thoroughly in patients with suspected hypogonadism to seek evidence of heart failure and for possible complications of Turner’s syndrome.

Breasts

Pubertal staging requires breast examination to be performed in all.

The chest tends to be broad, with increased nipple spacing in Turner’s syndrome.

Body hair

Secondary sexual hair should be assessed as part of pubertal staging and in all adults presenting with suspected hypogonadism.

Fine vellus hair is seen in patients with very low body mass and may be associated with hypothalamic hypogonadism.

External genitalia

Secondary sexual characteristics should be assessed as part of pubertal staging

Thyroid and thyroid status

Thyroid disease has an increased incidence in Turner’s syndrome.