Paediatric Turner syndrome

Turner syndrome is characterised by gonadal dysgenesis and short stature. The diagnosis is confirmed with the karyotype 45 XO, though mosaicism is common.

General examination

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

Patients with Turner 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 syndrome.

Height, sitting height and arm span

In children and young adults it is essential to plot growth against standardised charts. These allow evaluation of height and weight and put this in the context of pubertal staging. Height should also be converted to standard deviation score in children.

Patients with Turner syndrome and pseudopseudohypoparathyroidism tend to have short stature.

Patients with Klinefelter’s tend to have tall stature. 

Patients with Cushing’s syndrome in childhood tend to lose height growth velocity.

Weight, body composition and BMI

Truncal and generalised obesity should be assessed. BMI and BMI standard deviation should be calculated.

Plot height, weight and growth velocity

Plot patient’s height and weight and parents’ height centiles on standardised local centile chart. Use 13cm correction to plot gender-appropriate parents’ centiles - (mid parental height +13cm for boys, -13cm for girls).

Arms, carrying angles, hands and feet

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

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

Assess pubertal development

The assessment of pubertal development has recently changed from the previous Tanner staging system.

The chart below gives an overview of when a child is described as pre-puberty, in puberty or completing puberty. 

Pre puberty

(Tanner stage 1)

All of the following:

In Puberty

(Tanner stages 2-3)

Any of following:

Completing Puberty

(Tanner stages 4-5)

All of the following:

No signs of nipple or breast development

Any breast enlargement as long as nipples also enlarged

Started periods (menarche)

No pubic hair

Any pubic or axillary hair

 

Breast, pubic and axillary hair development

 

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 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 syndrome.

Blood pressure

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

Thyroid and thyroid status

Thyroid disease has an increased incidence in Turner syndrome.