Symptoms:
Girls
- Girls will have normal internal female reproductive organs (ovaries, uterus, and fallopian tubes).
- Abnormal menstrual periods
- Genitals that look both male and female (ambiguous genitalia), often appearing more male than female
- Deep voice
- Early appearance of pubic and armpit hair
- Excessive hair growth and facial hair
- Failure to menstruate
Boys:
- Won't have any obvious problems at birth, but they may appear to enter puberty as early as 2 - 3 years of age.
- Deep voice
- Early appearance of pubic and armpit hair
- Early development of masculine characteristics
- Enlarged penis
- Small testes
- Well-developed muscles
Both boys and girls will be tall as children but significantly shorter than normal as adults.
physical changes:
- Abnormal female external genitals (internal organs are normal)
- Early development of male sexual characteristics
- Short height as an adult, despite early, rapid childhood growth
Personality changes:
There is no personality change. They live pretty normal lives
Prognosis or Life Expectancy
- People with this condition usually have good health. However, they may be shorter than normal, even with treatment.
- Males have normal fertility. Females may have a smaller opening of the vagina and lower fertility.
- People with this disorder must take medication their entire lives.
- Untreated, adrenal crisis can lead to death within 1 - 6 weeks after birth.
Mortality rate
- Ages 1 to 4 years (standardized mortality ratio = 18.3)
- Older ages and was significantly increased in patients of Indian-subcontinent ethnicity (standardized mortality ratio = 20.4), particularly in girls.
Treatment
- There is no cure for CAH
- The goal of treatment is to return hormone levels to normal. This is done by taking a form of cortisol (dexamethasone, fludrocortisone, or hydrocortisone). People may need additional doses of medicine during times of stress, such as severe illness or surgery.
- dexamethasone: similar to a hormone produced by the adrenal, to replace this chemical when the body does not make enough of it.
- fludrocortisone: is a corticosteroid. It works by causing the kidneys to retain sodium and acting as a replacement for cortisone when the body does not produce enough.
- hydrocortisone: main steroid hormone secreted by the adrenal gland. Expected to replace the natural cortisol that is missing due to the congenital adrenal hyperplasia, and this may help to treat the symptoms of the disease.
these must be taken daily
- Women can have reconstruction of the genitalia, making it look more like a vagina. This can become very expensive depending how disfigured the genitals are.
