Why are the adrenal glands malfunctioning?
The adrenal cortex produces cortisol through a chain of transformations, each of which involves a different enzyme. With a congenital deficiency of one of the enzymes, the chain is interrupted, insufficient cortisol is formed, and the substances that have accumulated to the site of the block go along a roundabout path - towards male sex hormones. The pituitary gland, not receiving a signal about sufficient cortisol levels, increases the production of ACTH, the adrenal glands enlarge and produce even more androgens. In the most severe case, the formation of aldosterone also suffers, causing the body to lose salt and water.
- Enzyme deficiency, usually 21-hydroxylase
- Cortisol deficiency
- Excessive stimulation of the adrenal glands by the hormone ACTH
- Shift of synthesis towards androgens
- In severe form - lack of aldosterone
Forms and how they appear
The severity depends on how much enzyme activity is maintained. With the salt-wasting form, vomiting, lethargy, poor weight gain and dehydration appear in the first weeks of life - this is a life-threatening condition. In the simple virile form, there is no loss of salt, but an excess of androgens causes changes in the structure of the external genitalia at birth in girls, and accelerated growth and early puberty with subsequent short stature in both sexes. The non-classical form appears later: acne, excess hair growth, cycle disruption, difficulty conceiving.
- Salt-wasting form: vomiting and dehydration in a newborn
- Simple viril form: excess androgens without loss of salt
- Non-classical form: adolescence and adulthood
- Accelerated height in childhood and short stature in adulthood
- Cycle disorders and infertility in women
- Boys have early puberty
Diagnostics
The key test is 17-OH-progesterone, a substance that accumulates in front of the site of the enzyme block. Its level is sharply increased in classical forms, and in non-classical forms a stimulation test is required, because basal values can be borderline. Women donate blood on certain days of the cycle and always in the morning. Additionally, cortisol, ACTH, androgens, electrolytes and renin levels are assessed. The diagnosis is confirmed by genetic research, which is also important for family planning. Newborn screening is used in many countries.
- 17-OH-progesterone in the morning
- Stimulation test for non-classical form
- Cortisol and ACTH
- Testosterone and other androgens
- Sodium, potassium, renin
- Genetic research
- Ultrasound of the adrenal glands and pelvic organs
Treatment
The basis is glucocorticoid replacement therapy, which simultaneously replenishes the lack of cortisol and reduces excessive stimulation of the adrenal glands, reducing the production of androgens. For the salt-wasting form, a mineralocorticoid is added, and for infants, salt is added as prescribed by the doctor. Doses are selected individually and regularly reviewed: too small a dose does not suppress androgens, too much inhibits growth and produces side effects. As with adrenal insufficiency, in case of illness, injury and surgery, the dose is temporarily increased according to a predetermined scheme. With the non-classical form, treatment is not prescribed to everyone.
- Glucocorticoids in an individually selected dose
- Mineralocorticoids for salt-wasting form
- Increasing the dose for illness, fever, surgery
- Regular monitoring of height, weight and hormones in children
- Observation by a gynecologist for women
- For non-classical form, treatment according to indications
Life with a diagnosis: growth, cycle, pregnancy
With properly selected therapy, children grow normally, and adults lead normal lives. Girls with pronounced changes in the structure of the external genitalia may need surgical correction, the timing and extent of which is discussed with the family. Observation by a gynecologist is important for women: with good control, the cycle is restored and pregnancy is possible, although additional treatment is sometimes required. When planning a family, consultation with a geneticist is useful because the risk of transmitting the disease depends on the carrier status of the partner. You need to carry information about your diagnosis with you at all times.
- Monitoring growth rate and bone age in children
- Surgical correction according to indications and decision of the team of doctors
- Cycle restoration with good control
- Planning pregnancy with an endocrinologist and gynecologist
- Family genetic consultation
- Card with information about the disease and rules for illness
