Congenital adrenogenital disorders associated with enzyme deficiency - what does this mean
Congenital adrenogenital disorders associated with enzyme deficiency are caused by mutations in genes that code for enzymes involved in the synthesis of hormones, such as cortisol or aldosterone, from cholesterol. these mutations can lead to a deficiency in the production of these hormones, resulting in a variety of clinical symptoms depending on the specific enzyme affected.
What happens during the disease - congenital adrenogenital disorders associated with enzyme deficiency
Congenital adrenogenital disorders associated with enzyme deficiency is caused by a defect in the enzyme 21-hydroxylase, which is responsible for the conversion of progesterone to cortisol and aldosterone. this leads to a decrease in the production of these hormones, resulting in a variety of symptoms, such as ambiguous genitalia, precocious puberty, hypertension, hypoglycemia, and electrolyte imbalance.
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms of Congenital adrenogenital disorders associated with enzyme deficiency.
- Administering hormone replacement therapy
- Administering oral corticosteroids
- Monitoring blood pressure and electrolytes
- Monitoring liver function tests
- Monitoring growth and development
- Providing dietary advice
- Providing psychological support
- Encouraging physical activity
- Providing education about the condition

14 Days of Hospitalization Required

Average Time for Outpatient Care Not Established
Congenital adrenogenital disorders associated with enzyme deficiency - Prevention
Prevention of congenital adrenogenital disorders associated with enzyme deficiency is primarily done through genetic counseling and testing prior to pregnancy. couples who are known to be at risk for these disorders should be informed about the risks and options for testing and prenatal diagnosis.