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(E25.0) Congenital adrenogenital disorders associated with enzyme deficiency
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132 170 in individuals diagnosis congenital adrenogenital disorders associated with enzyme deficiency confirmed
692 deaths with diagnosis congenital adrenogenital disorders associated with enzyme deficiency
1% mortality rate associated with the disease congenital adrenogenital disorders associated with enzyme deficiency
Diagnosis congenital adrenogenital disorders associated with enzyme deficiency is diagnosed Women are 30.88% more likely than Men
45 681
Men receive the diagnosis congenital adrenogenital disorders associated with enzyme deficiency
692 (1.5 %)Died from this diagnosis.
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Women receive the diagnosis congenital adrenogenital disorders associated with enzyme deficiency
0 (less than 0.1%)Died from this diagnosis.
Risk Group for the Disease congenital adrenogenital disorders associated with enzyme deficiency - Men aged 0 and Women aged 15-19
In Men diagnosis is most often set at age 0-54, 60-69
Less common in men the disease occurs at Age 55-59, 70-95+Less common in women the disease occurs at Age 75-84, 95+
In Women diagnosis is most often set at age 0-74, 85-94
Disease Features congenital adrenogenital disorders associated with enzyme deficiency
Absence or low individual and public risk
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.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete physical examination
- Blood tests to measure hormone levels
- Urine tests to measure hormone levels
- Genetic testing
- Imaging tests such as ultrasound and MRI
- Enzyme activity tests
- Other specialized tests, such as ACTH stimulation test
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.