Congenital Adrenal Hyperplasia

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

Babies born with ambiguous genitalia require a detailed physical assessment by an experienced paediatric endocrinologist.

Babies suspected of having CAH should have ongoing monitoring for salt wasting by monitoring for failure to thrive.

Babies suspected of having CAH should have ongoing monitoring for salt wasting by monitoring for low blood pressure.

Look for signs of precocious puberty. Detailed advice on pubertal staging is available.

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). Rapid growth may suggest accelerated puberty due to insufficient glucocorticoid replacement therapy. Growth decelleration may suggest supraphysiological glucocorticoid replacement.

Blood pressure should also be monitored in children wth CAH. 

Monitor for signs of precocious puberty, and assess the appropriateness of pubertal stage for age.

Hirsutism  

Acne

Skin  

External genitalia  

BP should be checked whatever age the patient. Elevated BP may reflect supraphysiological glucocorticoid replacement.

Low blood pressure or a drop in blood pressure on standing indicates suboptimal mineralocorticoid replacement.

Baseline recording of weight and BMI is useful for future comparison since glucocorticoid therapy may be associated with weight gain.

Infants suspected of having CAH require careful growth monitoring for failure to thrive. Children with confirmed CAH also require close monitoring for growth (poor growth may be associated with under or over treatment, accelerated growth is typically associated with undertreatment and may herald premature puberty).

The symptom of hirsutism is highly subjective and depends on multiple social circumstances. It is therefore useful to document this as objectively as possible. 

The modified Ferriman Gallwey score gives a score of 0-4 for each area where 0=no terminal hairs (terminal hairs are pigmented and >0.5cm long), 1=few, 2=modest, 3=severe, 4=equal to a hairy man. Nine distinct body areas are assessed: upper lip, chin/jaw, chest, abdomen, pubic area, upper arms, thighs, upper back, natal cleft, giving a maximum score of 36. Hirsutism may be defined by scores above four, though some publications state 10 to indicate moderate hirsutism.

Diffuse hair loss or temporal recession may also occur in hyperandrogenic states including CAH.

This is commonly seen with insulin resistance and supraphysiological glucocorticoid replacement.

Examine the skin for signs of glucocorticoid excess: thinning of the skin, pigmented striae and excessive bruising.

Gently pinch the skin on the back of the hand to seek the fine wrinkling of thinned atrophic skin.

Striae are common and should fade soon after forming at times of rapid growth, for example puberty or pregnancy. In Cushing's syndrome of any cause, the striae remain livid - purple or red - and are often extensive.

Clitoromegaly is indicative of continued hyperandrogenism, or poor control of CAH.

Gynaecological assessment is often useful to ensure normal sexual function.

Proximal myopathy is usually present in patients with glucocorticoid excess of any cause.

One of the most sensitive tests is to ask the patient to squat on the floor with their heels flat on the ground. While demonstrating the same thing, ask the patient to then rise to a standing position without using their arms for support or swinging their bottom up and out first.

More severe myopathy will be evident by asking the patient to rise from a chair without using their arms for support.

Examine the musculature for increased bulk in women. Examine for changes in secondary sexual characteristics, such as hirsuitism and clitoromegaly.