CAH in Adolescents

In this chapter, you will learn important aspects of managing adolescents with CAH. Even during puberty, consistent adherence to taking these vital medications is essential. Experimenting may be possible in all other areas of life – but not here! You will also read about the tendency toward low blood sugar during sports and preventive measures. Finally, there are some special considerations regarding different monitoring examinations for girls and boys during puberty, as well as during particularly stressful phases (e.g., stress and travel).

CAH with Salt Wasting

During adolescence, all young people go through a phase in which they increasingly wish to withdraw from parental influence. This stage is also marked by considerable creativity and a heightened willingness to take risks. Personal identity continues to mature, new relationships are formed, and first romantic partnerships may develop. All these changes can also affect how a chronic, lifelong condition is managed. In addition, there are specific changes related to CAH that occur during this phase. For example, in adolescents, the breakdown of cortisol from hydrocortisone medication happens more quickly than in younger children (more pronounced in girls than in boys). Consequently, a higher hydrocortisone dose may be required. Furthermore, during adolescence, the concentrations of sex hormones (estrogen in girls, testosterone in boys) gradually increase.

In this context, testosterone measured in the blood may increasingly originate from the gonads rather than solely from the adrenal glands, as was the case before the onset of puberty. Treating physicians must take this into account when assessing hormonal balance. Adolescence is sometimes also marked by reduced therapy adherence. This means that adolescents may not take their medication as regularly and may want to test boundaries. At this point, things can become dangerous! The risk of an adrenal crisis increases, and once the control of adrenal androgen synthesis is disrupted, it often takes time to restore good CAH management. Irregular or missed medication intake can lead to poor well-being, lack of energy, low blood pressure, and virilization in female adolescents. The most dangerous complication is the already mentioned adrenal crisis, which must be strictly avoided!

CAH and Sports

Scientific studies have shown that in people with CAH, not only is the cortisol reserve limited during both short-term exertion and endurance sports, but the body also produces less of another stress hormone – adrenaline. Normally, during exercise and strenuous physical activity, adrenaline is increasingly released by the adrenal medulla, leading, for example, to an increase in heart rate and blood pressure. In addition, adrenaline ensures that the body is supplied with “sugar” in the form of glucose, which then serves as an energy source for the muscles.

Since people with CAH have reduced levels of two blood-sugar-stabilizing hormones, there may be a tendency toward hypoglycemia, especially during longer periods of physical activity (endurance sports). Therefore, we recommend carrying fast-absorbing carbohydrates when exercising and, if necessary, consuming carbohydrates before or during exercise. Suitable carbohydrates include fruit (e.g., bananas), cereal bars, apple spritzer, or sugary isotonic drinks. To compensate for fluid and electrolyte loss during exercise, it is also important to ensure adequate fluid intake. With these measures, a person with CAH is fully capable and can also be very successful in sports! Additional administration of glucocorticoids (hydrocortisone) before exercise is not necessary. Scientific studies have also confirmed that this provides no benefit. In fact, a permanently high glucocorticoid dose can even reduce muscle mass and muscle strength and should therefore be avoided. If a person with CAH participates in competitive sports, the use of glucocorticoids must be reported to the National Anti-Doping Agency (NADA). In addition, the medical necessity of the medication must be confirmed, since all glucocorticoids are on the prohibited list of both the national and the worldwide Anti-Doping Agency.

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Special Considerations for Girls with CAH

In girls, the first menstrual period usually occurs about two years after the onset of puberty. Before this, girls with CAH should undergo an adolescent gynecological examination to ensure that there is no obstruction in the body that would prevent menstrual flow. “Adolescent gynecology” means that the gynecologists performing the examination are specially trained in the careful examination of adolescents and proceed with particular sensitivity. If surgery in the genital area took place during early childhood, this would also be a good time to inform the adolescent thoroughly, if this has not yet been done in detail. If CAH is not well controlled and androgen levels are consequently elevated, women with CAH may experience increased body hair of the male pattern – also called “hirsutism.” In addition, cycle irregularities with reduced fertility may occur.

Special Considerations for Boys with CAH (Puberty/TART)

In boys with CAH, benign “nodules” can develop in the testes starting in adolescence. In the past, this was usually observed only in cases of very poor CAH control. These “nodules” are called “TART” (= testicular adrenal rest tumors). From the onset of puberty, it is therefore recommended that boys with CAH undergo an annual ultrasound examination of the testes. While TART are not malignant, they can locally damage the testis through pressure and impair fertility. If TART are diagnosed, CAH medication should be reviewed and optimized in cases of poor control. Additionally, the option of sperm preservation can be considered as a preventive measure.

Follow-up Examinations / Treatment Plan

Adolescents with CAH should also undergo regular follow-up examinations to assess CAH control and to detect possible side effects of long-term glucocorticoid therapy. During adolescence, check-ups are usually carried out every six months. In principle, height, weight, and blood pressure should be measured at each visit. For girls up to the age of 15 and boys up to the age of 17, it makes sense to determine bone age using an X-ray of the (left) hand.

Once the growth plates are closed, bone age no longer needs to be assessed. Normally, a blood test is carried out once a year—primarily to check electrolytes and renin. In addition to other adrenal hormones, blood lipid levels, blood sugar, and vitamin D are often tested as well. CAH control can also be assessed using a 17-OH-progesterone daily profile from saliva, capillary blood, or 24-hour urine collection. A bone density measurement should be performed in young adulthood between the ages of 25 and 30. As mentioned earlier, adolescent girls should have a gynecological examination, and boys should have an annual ultrasound examination of the testes as standard practice.

Medication Adjustment During Time Zone Changes While Traveling

Timing of Intake, Additional Dose

Medication adjustments may become relevant when traveling across different time zones. A time difference of only 2–3 hours is usually irrelevant. With a time shift of ≥4 hours, things become a bit more complicated. When traveling west, the day becomes longer, meaning that an additional hydrocortisone dose is advisable. When traveling east, the day becomes shorter, which may make it reasonable to reduce or skip a hydrocortisone dose. Keep in mind that the human circadian rhythm needs about 3–5 days to adapt to a new time zone. Before planned international travel with significant time shifts, the procedure should always be discussed individually with the treating physician.

In principle, enough medication should always be taken on trips, including extra doses for possible stress situations. To minimize risk, medication should be split between checked luggage and carry-on when flying. When traveling to warmer countries, prednisone suppositories should be kept refrigerated. The hydrocortisone emergency ampoule (including needles and syringes) should be carried along. The European emergency ID card should not be forgotten. It is also often helpful to bring or photograph a copy of the most recent medical report and to find out in advance where endocrinology expertise is available at the travel destination.

School

In school, an open approach to the condition is generally advisable. However, it is usually sufficient to state the diagnosis as a congenital adrenal insufficiency. An emergency card, hydrocortisone tablets, prednisone suppositories, and, if necessary, a hydrocortisone emergency ampoule should be stored at school. In case of an emergency, paramedics and parents must be informed. In general, no recommendation is made for administering a hydrocortisone stress dose in situations of psychological stress or exam stress. Such increases should be reserved for absolute exceptional circumstances, such as the death of a close family member, final secondary school exams, or comparable graduation exams. In principle, such dose adjustments should only be made after consultation with the treating physicians. It should also be kept in mind that a high hydrocortisone dose can increase nervousness, as one may feel more “restless” after such an intake.