What is Congenital Adrenal Hyperplasia?
What is Congenital Adrenal Hyperplasia? Congenital Adrenal Hyperplasia is a series of genetic disorders that affect the working of the adrenal gland. The adrenal gland is a gland located above the kidneys.The adrenal glands produce important hormones in the body. In Congenital Adrenal Hyperplasia, the disorder occurs in the production of one or more of the following three hormones:
- Cortisol. Hormones that serve to regulate the body’s response to illness or stress.
- Mineralocorticoids. For example aldosterone, which serves to control the levels of sodium and potassium
- Androgens. For example, testosterone, which acts as a sex hormone.
Generally the disorder that arises is decreased production of cortisol and increased androgen production.
Type of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia can attack both men and women. However, because the symptoms of Congenital Adrenal Hyperplasia in women more clearly and more easily detected, generally patients get treatment from an early age so that the severity is not as heavy in men and rarely cause complications.
Congenital adrenal hyperplasia is divided into 2 types, namely classical and nonklasik. The classical rights themselves are subdivided into salt-losing and non-salt-losing types.
Classical rights are more severe than nonclassical Congenital Adrenal Hyperplasia, and are usually detected at the time of screening for newborns. Baby girls with this disorder can be easily detected at birth, because of the abnormalities of the genital organ form.
Meanwhile, nonclassic rights are a type of Congenital Adrenal Hyperplasia with milder symptoms. This type is generally.
Symptoms of Congenital Adrenal Hyperplasia
Symptoms of Congenital Adrenal Hyperplasia depend on the type of Congenital Adrenal Hyperplasia and sex of the patient.
In infant girls, symptoms include abnormal sex, may be urethral size) and vaginal opening.
In infant boys, the general symptom of classical Congenital Adrenal Hyperplasia is not very clear, ie darker skin color. In the salt-losing type, new symptoms appear in the event of a sodium-loss crisis, usually 7-14 days after birth. Symptoms may include vomiting, fatigue, weight loss, dehydration, and collapse (with or without loss of consciousness).
The symptoms of male patients in the non-salt-losing type are not very clear and often newly diagnosed in childhood. Children with this type of control show symptoms of virilization (puberty in men) at a very early age, usually at 2-4 years of age, such as penis enlargement and pubic hair growth.
Symptoms Nonzclusiv are lighter, and sometimes do not cause any indication. Symptoms may include early sexual development, such as the growth of pubic hair and armpit hair, the size of the penis enlarged in men, as well as the rapid addition of height but will eventually be lower than the average.
Symptoms of nonclasic rights that can appear specifically in female patients in the form of masculine characteristics (growing mustache or low voice), infertile, severe acne, menstruation little and irregular, or even no menstruation at all.
Diagnosis of Congenital Adrenal Hyperplasia
Examinations that can be done to detect the presence of congenital adrenal hyperplasia abnormalities in the fetus in the womb are:
- Amniocentesis, ie the taking of amniotic fluid water containing fetal cells.
- Chorionic villus sampling or CVS, ie sampling of the placental tissue.
While tests performed to diagnose infants or children suspected of having an RIGHT include:
- Examination of blood and urine to detect the levels of hormones produced by the adrenal gland.
- Ultrasound to see the presence or absence of abnormalities in the shape of internal organs, such as uterus or kidney, if found abnormalities in the form of genitals.
- X-rays to see bone clearance. Patients with RIGHT generally have faster bone development.
- Examination of sex through chromosome analysis, especially in infant girls with confused genital forms.
- Genetic examination. This check is performed when other tests have not been able to confirm the diagnosis.
Treatment of Congenital Adrenal Hyperplasia.
Handling of Congenital Adrenal Hyperplasia depends on the type and severity. Reducing excess androgen hormones and replacing less hormones is the goal of treating Congenital Adrenal Hyperplasia.
Patients with nonclasic rights without any complaints, generally do not require treatment. However, if abnormalities in Congenital Adrenal Hyperplasia cause disruption and problems, the handling may be:
- Provision of drugs, such as glucocorticoids as a substitute for cortisol, mineralocorticoids to replace aldosterone, and salt supplements (sodium chloride) to maintain salt levels in the body. In adult women with non-claved RIGHTS, contraceptive or flutamide contraceptives may be used to offset the effects of high androgen hormones.
- Reconstruction operation for Congenital Adrenal Hyperplasiain women with severe genital abnormalities. This is usually done at infancy (2 to 6 months of age).
Routine medical checks are also required to monitor the condition of the patient, as well as monitor the effectiveness of treatment. Although these disorders can not be cured, most people can live a normal life with proper treatment.