E25.0
DESCRIPTION
Autosomal recessive enzymatic defects of the cortisol biosynthetic pathways in the adrenal gland. The presentation depends on the severity and type of the enzyme defect.
DIAGNOSTIC CRITERIA
Clinical
- Neonates with disorder of sexual development (ambiguous genitalia).
- Adrenal insufficiency. See Adrenal insufficiency, acute.
- Accelerated growth velocity or precocious pseudopuberty.
Investigations
See Adrenal insufficiency, acute.
- Elevated 17-hydroxyprogesterone in the serum.
- Elevated serum renin.
GENERAL AND SUPPORTIVE MEASURES
- Psychological support for child and family.
See Adrenal insufficiency, acute - for stress management.
MEDICINE TREATMENT
Glucocorticoid and mineralocorticoid replacement. To be initiated in consultation with subspecialist.
- Hydrocortisone, oral, 0.5 mg/kg/day in three divided doses. Specialist initiated.
- The morning dose should be given as early as possible.
- ½ dose on waking up, ¼ dose at midday ¼ dose and at 4pm.
- Fludrocortisone acetate, oral, 5 mcg/kg/day as single daily dose.
- Range: 50–200 mcg daily.
For salt losing patients:
- Sodium chloride, oral, 0.5–1 g for every 10 kg body weight per day.
Glucocorticoids are administered for life. Once growth is complete, prednisone may be given once or twice daily. Long-acting glucocorticoids are generally avoided in children because of potential growth suppression.
The dose is individualised by monitoring growth, bone age and hormonal levels.
In all patients with poor adherence, Prednisone 1.5 - 3 mg/m² BSA as a single dose in the morning can be considered as a sub-optimal alternative.
REFERRAL
- All cases for confirmation of the diagnosis, counselling and initiation and monitoring of treatment.