Congenital Adrenal Hyperplasia Due To Apparent Combined Cyp17a1 And Cyp21a2 Enzymatic Deficiency Cn381304
A rare form of congenital adrenal hyperplasia affecting hormone production by the adrenal glands. It can cause ambiguous genitalia and hormonal imbalances. Treatment requires lifelong hormone replacement and monitoring.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(endocrine)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Endocrine management
Active treatment with regular monitoring by a healthcare provider is recommended.
Glucocorticoid Replacement Therapy
Lifelong glucocorticoid replacement is essential to replace deficient cortisol production and suppress excess ACTH drive that leads to androgen excess. Hydrocortisone or equivalent synthetic glucocorticoids are typically used.
Mineralocorticoid Replacement Therapy
Fludrocortisone replacement maintains electrolyte balance and blood pressure in patients with aldosterone deficiency. Dosing must be individualized based on renin levels and clinical parameters.
Additional treatment options
Hormonal and Biochemical Monitoring
Regular monitoring of 17-hydroxyprogesterone, androgens, electrolytes, and renin levels helps optimize treatment dosing and detect adrenal crises early.
monitoringStress Dosing Protocol Education
Comprehensive education on stress dosing during illness, injury, or procedures prevents life-threatening adrenal crisis. Patients should carry emergency medical identification.
lifestyleSodium Supplementation
Increased dietary sodium intake may be recommended for infants and patients with significant mineralocorticoid deficiency to maintain electrolyte homeostasis.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Congenital Adrenal Hyperplasia Due To Apparent Combined Cyp17a1 And Cyp21a2 Enzymatic Deficiency Cn381304?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Speiser PW, Azziz R, Baskin LS, et al. Congenital adrenal hyperplasia due to steroidogenic enzyme deficiencies: Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2018.
Miller WL, Auchus RJ. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev. 2011.
New MI, Abraham M, Gonzalez B, et al. Genotype-phenotype correlation in 157 patients with salt-wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res Paediatr. 2013.
Falhammar H, Thorén M. Clinical outcomes in congenital adrenal hyperplasia: a systematic review and meta-analysis. J Clin Endocrinol Metab. 2021.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy