Overview
In congenital adrenal hyperplasia, the adrenal glands make too little cortisol and often too much male hormone. It is lifelong but can be well controlled with medicines.
Signs
- Ambiguous genitals in baby girls
- Salt-losing crisis in newborns: vomiting, poor feeding and dehydration
- Early pubic hair and fast growth in childhood
- Irregular periods and excess hair in girls and women
Causes and risk factors
It is inherited in an autosomal recessive pattern, meaning both parents carry a gene change. It is more common when parents are related.
Diagnosis
Diagnosis uses blood tests for hormone levels, genetic testing and, in some places, newborn screening.
Treatment
Treatment includes lifelong hormone replacement with hydrocortisone and sometimes fludrocortisone. Extra doses are needed during illness. Some girls may need surgery.
When to see a doctor
Seek urgent care if a newborn is vomiting, not feeding or seems very unwell. People with CAH need regular specialist follow-up.
This information is for general education and does not replace advice from a qualified doctor. For a medical emergency, call +92-51-8446666 or go to the nearest emergency department.
