Short stature

Short stature is defined by national standards of growth and centile charts, taking into account mid parental height, and is generally accepted as a standing height >2SD below the mean. The commonest causes are familial short stature and constitutional delay of growth. Growth hormone deficiency, GH resistance, hypothyroidism, Turner and Cushing’s syndrome are rarer endocrine causes, and malnutrition remains the commonest cause worldwide.

General examination

A detailed and full general examination is mandatory in the initial assessment of all endocrine patients.

Specifically seek dysmorphic features in the face, trunk and limbs. Abnormalities of pubertal development may be the presenting feature in patients with unrecognised congenital abnormalities which may have other non endocrine manifestations.

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, Noonan 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.

Arms, carrying angles, hands and feet

Increased carrying angles tend to occur in Turner syndrome and Noonan syndrome.

Shortened metacarpals and metatarsals may be seen in pseudopseudohypoparathyroidism.

Assess pubertal development

The assessment of pubertal development has recently changed from the previous Tanner staging system. The charts below give an overview of when a child is described as pre-puberty, in puberty or completing puberty.

Girls:

Pre-puberty

(Tanner stage 1)

All of the following:

In Puberty

(Tanner stages 2-3)

Any of the 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

 

Boys:

Pre-puberty

(Tanner stage 1)

All of the following:

In Puberty

(Tanner stages 2-3)

Any of the following

Completing Puberty

 (Tanner stages 4-5)

Any of the following

High voice

Slight deepening of the voice

Voice fully changed (broken)

No growth of testes or penis

 

Reddening of the scrotum and growth of the testes

Adult size testes and penis with adult pubic and axillary hair growth

No pubic hair

Early penile enlargement Early pubic or axillary hair growth

Early moustache and facial hair growth

 

Examine for mirror movements

Synkinesis or mirror movements occur in some forms of Kallmann'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 Kallmann’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 growth failure or pubertal delay to seek evidence of underlying cardiovascular problems such as valvular heart disease, to seek evidence of heart failure, and for coarcation of the aorta in possible Turner syndrome.

Gastrointestinal system

This should be assessed thoroughly in patients with growth failure or pubertal delay to seek evidence of underlying physical disease.

Breasts

Pubertal staging requires breast examination to be performed in all.

Nipple spacing tends to be increased in Turner syndrome.

Galactorrhoea should be confirmed and documented as either spontaneous or expressible by gently exerting pressure on both sides of the nipple.

Breasts and axillae should also be examined for masses particularly in the case of unilateral galactorrhoea.

Serum prolactin levels may increase after breast examination and so should always be checked before this is performed.

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.

Testicular volume is particularly important in assessing puberty and should be documented using an orchidometer. Microphallus should be sought and documented if present.

Clitoromegaly and ambiguous genitalia should also be assessed.

Musculature

Poor muscle bulk may indicate gonadotropin deficiency.

Muscle wasting may also occur in glucocorticoid deficiency.

Proximal myopathy and slow relaxing reflexes may occur with loss of thyroid function.

Thyroid and thyroid status

Specifically seek signs of thyroid dysfunction which may disrupt gonadal function, as part of the general pituitary examination. It may occur in association with Turner’s syndrome.

Pituitary status


Visual acuity and visual fields

Full assessment of acuity and fields is mandatory in all patients suspected of pituitary disease to detect chiasmal compression or other involvement of the optic pathways.


Visual fundoscopy

Disc pallor is indicative of long term visual loss which may not recover after decompression of the optic pathway.

Papilloedema is an indicator of raised intracranial pressure requiring urgent investigation.


Cranial nerves III-XII

Full cranial nerve assessment is important in all patients with suspected pituitary tumours.

The nerves of the cavernous sinus are most frequently affected, though a VI nerve palsy may be a false localising sign associated with increased intracranial pressure.


Skin

Bronze pigmentation may be seen in haemochromatosis.

Pallor may also occur with a normocytic normochromic anaemia with glucocorticoid deficiency.

Doughy pallid 'myxoedematous' skin may be seen with loss of thyroid function.

Plot height and weight on a standardised chart

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).