Congenital adrenal hyperplasia (CAH)
What is it?
In congenital adrenal hyperplasia, one or more proteins (enzymes), contained in the cells of the adrenal gland and responsible for the synthesis of various hormones, may be missing or not functioning properly. In this case, an abnormal synthesis or secretion of adrenal hormones is determined, with symptoms and signs that vary in relation to the lack or excess of individual hormones. The most common form is 21 alpha hydroxylase deficiency, which in adults presents in the form called "late onset".
Which are the symptoms?
Among adolescents and adults with non-classical congenital adrenal hyperplasia, the most frequent symptoms are: alterations in the menstrual cycle (oligomenorrhea, amenorrhea), hirsutism, acne, reduced fertility; in both females and males, signs of non-classical congenital adrenal hyperplasia may also include early puberty with advanced bone age and lower expected final height.
- Premature Puberty
- Reduced fertility
How is it diagnosed?
Classical 21-hydroxylase deficiency is characterized by elevated levels of 17-hydroxy progesterone, the main substrate of the enzyme. To confirm the diagnosis, the ACTH stimulation test is performed, which will evaluate the possible increase in 17OH progesterone. This test is performed in Day Hospital. On the basis of the response to the test, a consultation with a geneticist may be suggested to evaluate the necessity to perform a confirmatory genetic test.
How is it treated?
The treatment of Congenital Adrenal Hyperplasia involves the replacement therapy with glucocorticoids and in rarer cases of mineralcorticoids. In the non-classical form of 21-hydroxylase deficiency, the pharmacological treatment with glucocorticoids is not always recommended, especially in asymptomatic patients; in females, especially in adolescents and young women with signs of virilization, an alternative pharmacological treatment can also be considered, such as the use of the estro-progestin pill possibly associated with drugs with anti-androgenic action.
Where do we treat it?
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