Adrenal Hyperplasia, Congenital
Description Diagnostic criteria General and supportive measures Medicine treatment Referral ICD-10 Code: 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 sex development (ambiguous genitalia). Adrenal
General and supportive measures
ICD-10 Code: 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 sex 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 a 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 at 16h00.
- Fludrocortisone acetate, oral, 5 μg/kg/day as a single daily dose.
- Range: 50–200 ug daily.
For salt losing patients:
- Sodium chloride, oral, 1-2 g daily, divided and given with feeds.
Glucocorticoids are administered for life. Once growth is complete, prednisone may be given once 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.
REFERRAL
- All cases for confirmation of the diagnosis, counselling and initiation and monitoring of treatment.
Standard Treatment Guidelines and Essential Medicines List for South Africa, Hospital Level, Paediatrics, 2023 Edition
Chapter 7: Endocrine, 7.2 Adrenal Hyperplasia, Congenital