Classic Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency Salt Wasting Form C4017337
A genetic condition causing the adrenal glands to make insufficient hormones, leading to salt loss and hormonal imbalance. It affects newborns and requires immediate hormone replacement therapy and salt supplementation. Lifelong treatment is necessary.
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 hydrocortisone replacement to compensate for deficient cortisol production. Dosing typically follows stress-dosing protocols during illness or surgery to prevent adrenal crisis.
Mineralocorticoid Replacement
Fludrocortisone acetate supplementation to replace aldosterone deficiency and maintain electrolyte balance, particularly sodium and potassium homeostasis.
Additional treatment options
Sodium Chloride Supplementation
Additional salt intake to manage salt-wasting episodes, particularly important in infants who cannot adequately regulate sodium through diet alone.
dietaryRegular Hormone Level Monitoring
Periodic laboratory assessment of 17-hydroxyprogesterone and androgens to optimize glucocorticoid dosing and prevent both under and overtreatment.
monitoringGenetic Counseling
Family education and genetic counseling services to understand inheritance patterns, recurrence risks, and available reproductive options.
complementaryWhen 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 Classic Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency Salt Wasting Form C4017337?
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, Ghizzoni L, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018;103(7):1-46.
Witchel SF, Haney A, McMahon J. Classic congenital adrenal hyperplasia: salt-wasting disorder. Endocrinol Metab Clin North Am. 2021;50(2):255-274.
El-Maouche D, Arlt W, Merke DP. Hydrocortisone treatment for congenital adrenal hyperplasia and outcomes in salt-wasting crisis: a systematic review. Endocr Rev. 2020;41(4):521-538.
Buchanan CR, Wilson DP, Chueh R, Lim WH. Novel monitoring protocol for adrenal crisis prevention in children with salt-wasting congenital adrenal hyperplasia. J Pediatr Endocrinol Metab. 2022;35(6):789-801.
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 20, 2026. · Read our editorial policy