Congenital Adrenal Hyperplasia
How is it treated?
Treatment consists of surgery in girls to reduce the size of the clitoris and open up the lower end of the vagina. Both sexes require hydrocortisone to suppress ACTH secretion and thus switch off androgen production, fludrocortisone to replace aldosterone and (during the first year of life) salt supplements.
The dose of hydrocortisone has to be carefully adjusted since under- treatment will result in over-production of androgen with excessive growth and virilisation, while over-treatment will cause slow growth and obesity. By adjusting the dose of hydrocortisone against the child's size, growth rate, skeletal maturity ('bone age') and adrenal steroid levels the treatment can be optimised and the general health of these children is good. It is important for parents to learn how to increase the hydrocortisone dose during acute illness, so as to mimic the normal cortisol response to stress. In particular, there is a need for an emergency regimen of hydrocortisone injection and salt replacement in severe illness.
Adults
The management of Congenital Adrenal Hyperplasia is very similar in adults. Treatment needs to be continued in men, particularly for them to maintain fertility. Women may have problems with excessive hair growth which requires specific treatment. It is important to have an assessment of their genitalia and vagina and additional surgery or non-surgical dilatation treatment may be need for comfortable sexual intercourse. Polycystic ovarian syndrome has an increased incidence and probably accounts for the increased risk of infertility. However, the infertility can usually be treated. There are several UK centres offering specialist Congenital Adrenal Hyperplasia clinics for adults.
What are the symptoms?
| Inheritance patterns and prenatal diagnosis ![]()