Overview
Definition
Group of genetic disorders affecting adrenal steroidogenesis.
Epidemiology
Varies globally depending on genetics, environment, or exposure.
Etiology & Risk Factors
- 21-hydroxylase deficiency (most common).
Clinical Symptoms
- Salt-wasting (vomiting/hypotension in neonate)
- ambiguous genitalia in females
- precocious puberty in males.
Clinical Approach
Diagnosis
- High 17-hydroxyprogesterone
- Low cortisol/aldosterone.
Management
- Lifelong glucocorticoid and mineralocorticoid replacement.
Complications
- Neonatal salt-wasting crisis
- death.