Definition
Congenital adrenal hyperplasia is a group of autosomal recessive hereditary diseases resulting from enzyme deficiencies in the adrenal steroidogenesis pathways. 21-hydroxylase deficiency is the most common.
Symptoms
- Ambiguous genitalia in girls
- Salt loss crisis (vomiting, dehydration)
- Early puberty
- Short stature
Reasons
Mutations in steroidogenesis enzyme genes (CYP21A2 most common).
Diagnosis
Newborn screening, elevated 17-hydroxyprogesterone in the blood.
Treatment
Cortisol replacement, mineralocorticoid replacement (if salt loss is present).
Which Polyclinic Should You Apply To?
Pediatric Endocrinology Polyclinic
What to Do in an Emergency?
In case of adrenal crisis (vomiting, diarrhea, hypotension, shock), emergency services should be consulted immediately.
This page is for general information purposes only.