Definition and Overview
Adrenogenital problems refer to disorders of the adrenal glands and the genitals, such as adrenogenital syndrome also known as congenital adrenal hyperplasia (CAH). The disorders are usually inherited, meaning that certain genes passed on from the parents are causing the problems. Adrenogenital problems can appear anywhere between infancy and adulthood.
The adrenal glands produce several different types of hormones:
* Corticosteroids - help the body effectively respond to injuries and illnesses
* Mineralocorticoids - help maintain the ideal water and salt levels in the body; and
* Androgens, which are the male sex hormones
In CAH, the adrenal glands lack a certain enzyme to produce one or more of the hormones, which then results in the over compensation of the production of other hormones. One of the most common types of CAH is the absence of the 21-hydroxylase enzyme, which is used in the production of cortisol and aldosterone. The deficiency of these hormones results in the overproduction of androgens, which results in a variety of symptoms, one of which is abnormalities in sexual development, such as virilization. Virilization refers to abnormalities in the male or female genitalia. Females usually have an enlarged clitoris that resembles a penis. In some cases, the gender of the child may even be questioned. Meanwhile, males have an enlarged penile size. Virilized children looks tall, but their growth does not continue beyond puberty. Thus, they usually end up as small adults. CAH is further categorized into two types: classic and non-classic. While the former is life threatening the latter is considered to be less serious. Classic CAH is usually found during infancy or early childhood, while non-classic CAH might not be evident until early adulthood. Unfortunately, there is no cure for CAH. However, current treatment methods can effectively reduce the symptoms, allowing the person to live a normal life.
Cause of Condition
People with adrenogenital problems usually inherit certain genes from both parents that cause the inability of the adrenal glands to produce specific hormones. CAH mostly affects girls, although there have been male cases as well.
The symptoms of these conditions vary according to the type of problem and the gender of the patient. Patients with adrenal glands that are unable to produce mineralocorticoids usually experience vomiting, which could lead to further reduction in salt levels and dehydration, eventually causing death if left untreated. On the other hand, patients whose bodies produce excessive androgens will display ambiguous genitalia, to the point that it can be difficult to identify whether the patient is male or female. Other symptoms would be early growth of pubic hair, early or delayed puberty, excessive facial hair, virilization, irregular menstruation, infertility, an enlarged clitoris, a shallow vagina, or an enlarged or deep sounding voice. Patients with rarer forms of CAH could display varying degrees of hypertension or a lack of sexual development.
Who to See and Types of Treatment Available
It’s important to understand that there is no cure for CAH, but treatment can reduce the symptoms. If the condition is detected during infancy or early childhood, the patient should be brought to a pediatrician for diagnosis and treatment. In some countries, infant screening for CAH is a standard practice. If not, and you are concerned that your child may have the condition, you can request for this type of screening.
If adrenogenital problems appear during early adulthood, the patient should consult a physician or a family doctor. If the doctor suspects CAH, the patient will be referred to other specialists, such as a plastic/reconstructive surgeon.
To diagnose CAH, several laboratory tests will be performed to confirm the condition. The lab tests will measure 17-OH progesterone, serum DHEA sulfate, and urinary 17-ketosteroids levels. It will also detect decreased levels of aldosterone, cortisol, or urinary 17-hydroxycorticosteroids.
In some cases, an x-ray will be performed for bone age identification. Patients with CAH will show older bones than normal on an X-ray.
If the condition is identified during infancy, surgery will be suggested once the infant is between 1 to 3 months of age. The surgical procedure will only help to improve the abnormal appearance of the genitals.
Patients are also treated with hormonal therapy to make up for the hormones that the adrenal glands are unable to produce. Most patients are administered with cortisone or hydrocortisone on a daily basis. This treatment aims to normalize androgen production. Infants with the condition are given injections until they reach 18 months, after which they can be given the hormones orally.
Most patients with CAH can live a normal life as long as they receive treatment. Infants that do not receive treatment usually do not live past six weeks.
Women with CAH normally have normal health, but they are usually shorter than normal, experience irregular menstruation, may not experience menstruation at all (amenorrhea), could experience psychological problems if they do not undergo plastic surgery, and will often have high blood pressure that is difficult to treat.
Unfortunately, patients with CAH require taking medications for the rest of their lives. If medications are stopped, the condition can lead to further complications, which include death.
Reference * White PC. Congenital adrenal hyperplasia and related disorders. In: Kliegman RM, Stanton BF, St. Geme J, Schor N, Behrman RE. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 570.