From the Guidelines
Congenital adrenal insufficiency requires lifelong hormone replacement therapy with glucocorticoids, such as hydrocortisone, and mineralocorticoids, such as fludrocortisone, to replace deficient hormones and prevent adrenal crisis. The diagnosis of primary adrenal insufficiency (PAI) should be considered in patients presenting with unexplained collapse, hypotension, vomiting, or diarrhea, and hyperpigmentation, hyponatremia, hyperkalemia, acidosis, and hypoglycemia increase clinical suspicion of PAI 1.
Diagnosis and Treatment
The diagnostic test for primary PAI should be paired measurement of serum cortisol and plasma ACTH, and in equivocal cases, a synacthen (tetracosactide) stimulated peak serum cortisol <500 nmol L-1 is diagnostic of PAI 1. Treatment involves hydrocortisone replacement, with most patients taking 15-25 mg daily in split doses, and fludrocortisone replacement, with most patients taking 50-200 µg daily as a single dose 1.
Management and Follow-up
Patients with PAI should wear Medic Alert identification jewelry and carry a steroid/alert card, and receive education on managing daily medications and situations of minor to moderate concurrent illnesses 1. Regular monitoring of electrolytes, blood pressure, and growth in children is essential, and patients should be advised to take salt and salty foods ad libitum and avoid liquorice and grapefruit juice 1.
Emergency Management
Adrenal crisis should be treated immediately with intravenous or intramuscular hydrocortisone, 100 mg followed by 100 mg 6-8 hourly until recovered, and isotonic sodium chloride solution should be administered at an initial rate of 1 L h-1 until hemodynamic improvement 1. The underlying precipitant of adrenal crisis, such as infection, should be sought once treatment has been initiated.
Quality of Life
Early diagnosis and proper management of congenital adrenal insufficiency allow patients to lead normal lives, though careful attention to hormone replacement is necessary throughout life 1. Regular follow-up and monitoring are essential to prevent complications and ensure optimal quality of life.
From the FDA Drug Label
Endocrine Disorders: Primary or secondary adrenocortical insufficiency (hydrocortisone or cortisone is the first choice; synthetic analogs may be used in conjunction with mineralocorticoids where applicable; in infancy mineralocorticoid supplementation is of particular importance); congenital adrenal hyperplasia; hypercalcemia associated with cancer; nonsuppurative thyroiditis Endocrine disorders Primary or secondary adrenocortical insufficiency (hydrocortisone or cortisone is the drug of choice; synthetic analogs may be used in conjunction with mineralocorticoids where applicable; in infancy, mineralocorticoid supplementation is of particular importance), congenital adrenal hyperplasia, hypercalcemia associated with cancer, nonsuppurative thyroiditis
The treatment of congenital adrenal insufficiency is not directly mentioned in the provided drug labels. However, primary or secondary adrenocortical insufficiency is mentioned, and it can be inferred that congenital adrenal insufficiency may be related to this condition.
- The drug labels suggest that hydrocortisone or cortisone is the first choice for treating primary or secondary adrenocortical insufficiency.
- Mineralocorticoid supplementation is of particular importance in infancy.
- Synthetic analogs may be used in conjunction with mineralocorticoids where applicable. It is essential to consult a healthcare professional for the diagnosis and treatment of congenital adrenal insufficiency 2 3.
From the Research
Congenital Adrenal Insufficiency
- Congenital adrenal insufficiency is a condition that requires daily hydrocortisone replacement with accurate dosing 4
- The treatment of classic congenital adrenal hyperplasia (CAH) involves replacing glucocorticoids with oral glucocorticoids, suppressing adrenocorticotrophic hormones, and replacing mineralocorticoids to prevent salt wasting 5
- Hydrocortisone (HC) is preferred in growing children with classic CAH, but recommendations regarding dosage and administration are inconsistent 6
Treatment Regimens
- Different glucocorticoid replacement regimens have been compared in terms of efficacy and safety in treating CAH due to 21-hydroxylase deficiency in children and adults 5
- A prospective study of children with CAH and adrenal insufficiency treated with hydrocortisone granules showed that accurate dosing and monitoring from birth results in hydrocortisone doses at the lower end of the recommended dose range and normal growth, without occurrence of adrenal crises 4
- Synthetic glucocorticoids instead of hydrocortisone do not increase mineralocorticoid needs in adult patients with salt-wasting congenital adrenal hyperplasia 7
Mineralocorticoid Needs
- Mineralocorticoid dosage does not significantly differ between patients receiving synthetic glucocorticoids or conventional hydrocortisone 7
- Higher blood pressure values despite the tendency for higher renin levels in those on synthetic glucocorticoids support the notion that the assessment of mineralocorticoid replacement adequacy should be guided by the clinical picture and blood pressure on a regular basis 7
- Infants with CAH require higher doses of fludrocortisone due to physiological mineralocorticoid resistance, and the adequacy of mineralocorticoid replacement should be closely monitored to avoid hypertension 8
Blood Pressure
- High prevalence of transient, most likely fludrocortisone-induced hypertension was found in young children with classic CAH diagnosed by newborn screening 8
- Systolic and diastolic blood pressure correlated significantly with the administered fludrocortisone dose, but not with body mass index 8
- Hypertensive children received significantly higher fludrocortisone doses and had significantly lower plasma renin activity during the study period 8