Congenital Adrenal Hyperplasia can present in childhood, adolescence or adulthood. CAH is an autosomal recessive genetic condition, the most common form being due to 21 hydroxylase deficiency. The diagnosis is confirmed biochemically with elevated 17 hydroxyprogesterone (17OHP) and androgens.
Girls with congenital adrenal hyperplasia, CAH, may present as babies with ambiguous genitalia. These patients are at high risk of salt losing crises.
Boys and girls not diagnosed at birth may present with a salt wasting crisis within the first three weeks of life. Alternatively patients may present later with precocious puberty.
Females may present later still with symptoms and/or signs of PCOS, known as non classic CAH.
A history of neonatal deaths, or other affected family members suggests classic CAH.
Maternal history of oligomenorrhoea or difficulty falling pregnant, is suggestive of a family history of PCOS.
Familial patterns of overweight, hirsuitism and acne are also important and should inform management.
Patients with CAH have an adverse metabolic profile, and so a family history of diabetes or of cardiovascular disease should also be sought.
Consanguinity increases the possibility of CAH and other inherited disorders.
Rapid growth in a young child may suggest precocious puberty and/or poor control of CAH.
Poor growth in patients with CAH may suggest too high a dose of glucocorticoids.
Children can present for the first time with precocious puberty or precocious puberty can occur because of poor control.
In the absence of a family history of CAH, patients presenting for the first time with early pubertal development (before 8 in girls and 9 in boys), will require careful assessment for other causes.
Precocious puberty can limit height potential and therefore careful management is often required. Conversely some patients with PCOS may also have been overweight as a child and have exhibited precocious puberty. Detailed pubertal history is therefore vital to help differentiate between these conditions.
Girls may present for the first time with irregular or absent periods or this may occur because of poor control.
Determine the pattern of menses since menarche, including pill usage and depot contraceptions.
Girls may have reduced sexual function and/or fertility. The reasons for this are multifactorial – psychological due to the diagnosis and genital surgery; structural due to genital surgery; and hormonal due to poor control of CAH and irregular periods.
Boys may have reduced fertility because of testicular adrenal rest tumours (TARTS) because of poor control of CAH. TARTS can be present as early as adolescence. These are sometimes misdiagnosed as Leydig cell tumours and unnecessary surgery may have been performed.
Acne is a common condition and frequently runs in families, presenting around puberty.
Hyperandrogenic acne occuring within the context of CAH or PCOS may be severe, more widespread, for example affecting the back, and between the breasts or more prolonged.
Androgenic hirsuitism is common post puberty in CAH, and improves with optimal treatment.
Unwanted hair growth is however common in other patients particularly with PCOS, and its perceived severity varies widely. Body hair distribution also follows distinct racial patterns, for example excess or dark hairs on the arms in some but not all races and is unrelated to hormonal mileu. Document how this affects the patient’s quality of life and the methods, effectiveness and frequency of depilation used.
Some patients may complain of dizziness which may be because their blood pressure is too low because of inadequate dosing of fludrocortisone.
As with any condition where the patient is dependent on glucocorticoids, patients with CAH are at risk of adrenal crises if they miss doses of glucocorticoids or become unwell.
Careful counselling is required about sick day rules LINK and carrying identification LINK that states they are taking glucocorticoids.
CAH can have profound psychological effects and counselling should be offered to all affected families.
Depression is also common in Cushing's.
Plethora and easy bruising - as well as acne or hirsuitism - are more suggestive of a diagnosis of Cushing's, or of overtreatment of CAH.
Weight gain is not typical in CAH, although it can be exacerbated by supraphysiological glucocorticoids.
The symptoms of hyperandrogenism are typically exacerbated by weight gain, and weight gain commonly predates other symptoms in PCOS.
Central weight gain, loss of growth velocity and virilisation should alert you to the possibility of Cushing’s or to overtreatment of CAH. Weight loss should alert to the possibility of under treatment or glucocorticoid deficiency.
These conditions should also raise the clinical suspicion for Cushing's syndrome or over treatment of CAH.
Patients often need high doses of glucocorticoids to maintain control and this can potentially cause problems such as reduced bone mineral density as well as obesity.
New deepening of the voice is suggestive of poor control of CAH or a virilising tumour.
This would suggest poor control of CAH or a virilising tumour.