Signs and treatment of congenital adrenal hyperplasia

This is an automatically translated article.

The article was professionally consulted by Doctor, Associate Professor, Dr. Nguyen Thi Hoan - Head of Pediatric Outpatient Department, Vinmec Times City International Hospital
The adrenal gland is a walnut-sized organ located above the kidneys that produces the hormones cortisol and aldosterone, which are responsible for producing hormones that help regulate metabolism, the immune system, blood pressure, etc. If transmission affects the adrenal glands and causes adrenal hyperplasia, you won't have enough enzymes.
1. What is congenital adrenal hyperplasia? Congenital adrenal hyperplasia is an autosomal recessive inherited disease, caused by the lack of specific enzymes in the adrenal glands, which are unable to synthesize adrenal hormones in response to the body's growth and resistance to stress. The disease commonly occurs in 2 forms: salt loss and simple virilization; With salt loss, this is the most common endocrine emergency in breastfed infants because of acute adrenal insufficiency. Recently, most cases are diagnosed under 1 year of age, the rest are diagnosed late in boys with precocious puberty and girls who have been completely transgendered like boys. stable life for children. Through the newborn screening program (CTSLSS), the worldwide incidence is 1/10,000 - 1/15,000 live births. The proportion of healthy people carrying this disease gene is 1/50. 2. How early is congenital adrenal hyperplasia detected? Children with congenital adrenal hyperplasia need to be detected and treated early to avoid the risk of death due to electrolyte disturbances and cardiovascular collapse
Screening test by taking a heel or venous blood sample on day 1 3 postpartum to do the 17OHP test. If the 17OHP result is higher than 75ng/ml, the family will be notified immediately to take the child to the doctor for re-examination to confirm the diagnosis. After diagnosis: The family received genetic counseling on how to care for a sick child during surgery and manage illness at home before going to the hospital. Prenatal screening: indicated for mothers who have had a sick child and now have another child: test for placental abruption to identify diseased pregnancy and drug treatment right from the womb.

3. How to treat congenital adrenal hyperplasia? The disease is caused by the adrenal gland not producing enough adrenocorticotropic hormone, so the mandatory treatment is lifelong adrenal hormone replacement therapy; Depending on the type of congenital adrenal hyperplasia, the child takes 2 Hydrocortisol drugs and salt metabolism hormone (DCA or Florinef) or 1 Hydrocortisol drug. For girls who need surgery to reconstruct the external genitalia, boys do not need surgery. Vinmec International General Hospital is currently providing prenatal screening packages, newborn screening to help detect congenital adrenal hyperplasia early for appropriate treatment.
To register for the above screening packages, customers can contact Vinmec Health System nationwide or register online on the website for service.

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