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Adrenogenital SyndromeAdrenogenital Syndrome General InformationAdrenogenital Syndrome is a common name given to the medical condition of congenital adrenal hyperplasia. It is a sum of autosomal recessive disorders affecting the steroid hormone production mainly in the adrenal glands, and it results in a deficiency of cortisol (the hormone that helps relieve stress). In patients afflicted with this condition, the pituitary gland (the primary hormone regulatory gland) senses the deficiency and begins secreting corticotropin in very large amounts, in an attempt to bring the cortisol levels back to a normal level. In turn, the corticotropin stimulates the adrenal glands causing them to produce massive amounts of intermediary hormones that have a similar effect to testosterone on children or fetuses, resulting in a “virilization” which usually causes the girls to develop an abnormally large clitoris (often resembling the male penis, and causing the child’s sex to be mistaken) and the males to have an enlarged penis. Children affected by “virilization” grow very rapidly due to an accelerated maturing of the bone tissue and also they experience puberty at a very young age, although when they reach adulthood they are of under average height. The Adrenogenital Syndrome in all its forms is caused by an enzyme deficiency that is genetically induced. In 95% of the cases, the lacking enzyme was 21-hydroxylase.This condition is very often encountered in what is called the “salt-losing form”, which is a deficiency in salt-retaining hormones. Undiagnosed patients lose body salt gradually, until they go into shock and eventually die. To prevent that, a series of tests for detecting any deficiency of 21-hydroxylase has been imposed for newborns as standard procedure in most states. Adrenogenital Syndrome SymptomsThere are some symptoms that can be noted in the children affected by the Adrenogenital Syndrome without any medical testing. The girls present ambiguous genitalia, their pubic and armpit hair grows sooner and they generally present excessive hair growth. They either develop irregular menstrual cycles, or completely skip menstrual periods. Boys also develop early pubic, facial and armpit hair and a strong musculature. Their masculine characteristics start to appear very early, and while their penis is very large they present rather small testicles. Both boys and girls are tall for their age; however they will end up as short adults. Medical testing of patients affected with the Adrenogenital Syndrome will reveal high levels of 17-ketosteroids in urine samples, as well as 17-OH progesterone and serum DHEA sulfate. At the same time, the test results will show that they have low levels of 17-hydroxycorticosteroids, aldosterone and cortisol, and abnormal levels of salt in their blood and urine. Also, an X-ray test of the bone tissue will reveal that they are maturing too fast for their age. A diagnosis can be set when the patient presents a number of these symptoms, and a highly qualified physician will easily identify it as Adrenogenital Syndrome. Although it may not be necessary, a genetic test is recommended as it will help diagnose the condition. Adrenogenital Syndrome TreatmentIn the case of Adrenogenital Syndrome, the treatment aims to bring the hormone levels back to normal, and the main method of accomplishing that is by prescribing a daily dose of a cortisol compound (hydrocortisone, fludrocortisone or dexamethasone are just a few examples), however it is recommended that the dose is increased whenever the patient is subject to prolonged stressful activities or during illness or surgery. In the case of a baby presenting ambiguous genitalia, it is recommended that a karyotyping is performed (an examination of the chromosomes) in order to correctly identify the baby’s gender. Also, for girls presenting abnormal or deformed genitalia, reconstructive surgery is available (however, it is highly recommended that the intervention is performed at 1 to 3 months of age, to avoid further complications and / or scarring). It is highly advised that the parents of children affected by the Adrenogenital Syndrome undergo a training course regarding the effects of steroid drugs on the human body, and they should be able to recognize the signs that a change in the dosage or medication is required. For example, they should be able to recognize the effects of stress on their child, and immediately contact their personal health care specialist, in order for the patient’s state to be re-evaluated and the dosage altered as appropriate. Also, they should take measures to ensure that the treatment is not stopped abruptly, as that may result in severe adrenal insufficiency. In most of the cases, the medication treatment will continue for the entire patient’s life. Generally, genetic counseling is advised for families where one or both of the parents present the Adrenogenital Syndrome, and also for families with one child afflicted with this condition. Once the fetus is formed, a series of tests is available for early research and diagnosis of the condition, however not all forms may be detected in this stage. Testing is possible in the first trimester (chorionic villus sampling) or in the second trimester (performing a measurement of the hormonal levels, especially 17-hydroxyprogesterone, in the amniotic fluid). Also, in most states there has been imposed a test on newborns to detect this condition in its early stages. It is highly advised that if you suspect that your child is affected by the Adrenogenital Syndrome you immediately seek advice and consultation from your personal health care specialist. Under no circumstances should you administer any kind of treatment without your physician’s direct instructions, and you should never administer any other dose than the one that was prescribed. Also, you should strictly follow the treatment schedule that was set up for you by the medical specialist that performed the consultation. If you are not convinced by the diagnosis, further testing and consultations should be made before starting any treatment. Adrenogenital Syndrome treatment is based on hormonal medication, and any unwarranted changes in the dosage can lead to severe complications and may have serious consequences which may affect the patient for his or her entire life. |
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