Aim of the current glucocorticoid treatment strategies in patients with classic types of CAH due to 21 hydroxylase deficiency is to replace the lack of cortisol (substitution) and, secondly, to suppress excess adrenal androgen production by restoring the negative feedback on ACTH release (suppression).
In adolescence, besides adequate substitution, achieving normal puberty and menstrual cycle, preventing hyperandrogenism (hirsutism) and prevention of the development of testicular adrenal rest tumors in male patients are considered relevant medical treatment goals. All these aims require individualized treatment strategies. Mostly supraphysiological dosages of glucocorticoids are necessary to suppress the ACTH release. Glucocorticoid overtreatment could lead to iatrogenic Cushings syndrome and increased cardiovascular risk. In adolescence, there is a decreased conversion of cortisone to cortisol and an increase in renal clearance of cortisol contributing to a relative lower cortisol concentration. Therefore, it is often necessary to increase dosages of hydrocortisone. However, current studies show that at this age glucocorticoids may have a deleterious effect on pubertal growth and therefore daily hydrocortisone dosage should not exceed 17 mg/m2. Therefore, it is a difficult task to find the right balance between under- and overtreatment especially in adolescence thereby avoiding important long-term complications.
In adolescence issues of sexual activity and contraception have to be discussed and genetic counseling has to be given to the patients. General information about CAH (including the need for wearing medical identification) should be given together with a crisis prevention training performed by an experienced nurse. In female patients with virilising CAH consultation of an experienced gynecologist should be arranged before or during puberty to decide whether additional surgery is needed.
A good preferably gradual transition to the adult endocrinologist has to be planned carefully at the end of adolescence.
30 Apr - 04 May 2011
European Society of Endocrinology