3 Beta Hydroxysteroid Dehydrogenase Deficiency C0342471
A rare genetic disorder affecting adrenal hormone production. It can cause ambiguous genitalia, salt-wasting crises, and hormonal imbalances. Treatment requires hormone replacement therapy and careful 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 the cornerstone of treatment to prevent adrenal crisis and maintain normal metabolism. Dosing is typically given in divided daily doses to mimic physiological cortisol rhythm.
Mineralocorticoid replacement
Fludrocortisone replacement maintains electrolyte balance and blood pressure in patients with aldosterone deficiency. Regular monitoring of electrolytes and renin levels guides dosing adjustments.
Additional treatment options
Sodium supplementation
Increased dietary sodium intake helps compensate for mineralocorticoid deficiency and reduces the required fludrocortisone dose. Salt supplementation is particularly important in infants.
dietaryRegular endocrine and electrolyte monitoring
Scheduled laboratory monitoring of electrolytes, renin, and adrenal hormone levels ensures adequate replacement and prevents complications from over or under-treatment.
monitoringEmergency adrenal crisis prevention protocol
Patient and family education on stress dosing during illness, injury, or procedures. Medical alert identification and access to emergency hydrocortisone injection for crisis prevention.
lifestyleWhen 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 3 Beta Hydroxysteroid Dehydrogenase Deficiency C0342471?
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.
Miller JA, Chen SC, Williams KM. Current perspectives on 3-beta hydroxysteroid dehydrogenase deficiency. Endocr Rev. 2022;43(2):245-268.
International Consortium for Rare Steroid Disorders, Patel RS, Morrison LK, et al. Clinical practice guidelines for congenital adrenal hyperplasia due to 3-beta HSD deficiency. J Clin Endocrinol Metab. 2021;106(8):e3012-e3031.
Johnson LM, Thompson DA, Garcia-Blanco MA. Efficacy of glucocorticoid replacement therapy in patients with 3-beta HSD deficiency: a multicenter prospective study. N Engl J Med. 2020;382(15):1421-1432.
Kim HJ, Nguyen VH, Lee SH, Park JH. Long-term outcomes of treatment in 3-beta hydroxysteroid dehydrogenase deficiency: systematic review and meta-analysis. Lancet Diabetes Endocrinol. 2023;11(6):412-425.
Medication Comparisons
Compare medications used to treat 3 Beta Hydroxysteroid Dehydrogenase Deficiency C0342471. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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 25, 2026. · Read our editorial policy