Overview
Non-classic CAH is one of the more common inherited conditions. Symptoms often appear in childhood, adolescence or adulthood and can be similar to polycystic ovary syndrome.
Symptoms
- Early pubic hair in children
- Fast growth and early bone maturation
- Acne
- Excess facial or body hair in women
- Irregular periods and difficulty getting pregnant
- Often no symptoms in men
Causes and risk factors
It is caused by a partial deficiency of an enzyme (21-hydroxylase) inherited from both parents.
Diagnosis
Diagnosis uses blood tests for 17-hydroxyprogesterone, sometimes after an ACTH stimulation test, and genetic testing.
Treatment
Treatment depends on symptoms and may include low-dose steroids, oral contraceptives, anti-androgen medicines and fertility support.
When to see a doctor
See a doctor if a child develops early signs of puberty or a woman has excess hair growth and irregular periods.
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.