Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive hereditary diseases. The lack of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone (ACTH). Moreover the impairment of cortisol synthesis results in adrenal hyperplasia and excessive androgen synthesis. Congenital adrenal hyperplasia is characterised by a considerable correlation between the genotype and the phenotype with the type of CYP21A2 gene mutation affecting the severity of 21-hydroxylase deficiency. The clinical manifestations of congenital adrenal hyperplasia in adults result from adrenocortical insufficiency, hyperandrogenism, and the adverse effects of glucocorticosteroids, which are used for the treatment of the syndrome. Non-classic congenital adrenal hyperplasia may sometimes have no clinical manifestation. Patients with classic congenital adrenal hyperplasia experience a wide variety of symptoms, including obesity, hypertension, hyperinsulinaemia, insulin resistance, and hyperleptinaemia. These abnormalities, the same as glucocorticosteroid treatment, promote the development of other diseases, such as metabolic syndrome, diabetes mellulitis, cardiovascular diseases and psychosocial problems. Moreover glucocorticosteroids treatment increases risk of osteoporosis and dermatological disorders. The maladies are more often seen in patients suffering from congenital adrenal hyperplasia syndrome than in the general population. Patients suffering from congenital adrenal hyperplasia require systematic evaluation of biochemical parameters (17-hydroxyprogesterone and androstendion) the same as clinical parameters (body mass index, waist circumference, glucose, lipids, blood pressure). Medical care for patients suffering from congenital adrenal hyperplasia should be provided by reference centres. Patients require cooperation between an endocrinologist, diabetologist, gynaecologist, andrologist, urologist, sexuologist and psychologist.
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