Adrenal Insufficiency Nr5a1 Related C4479664
A genetic form of adrenal insufficiency caused by NR5A1 gene mutations, affecting adrenal hormone production. Managed with lifelong hormone replacement therapy.
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.
Individualized Glucocorticoid Replacement
Tailored glucocorticoid therapy accounting for NR5A1-related specific hormone deficiencies. Treatment focuses on replacing deficient cortisol with lowest effective dose.
Targeted Mineralocorticoid Therapy
Mineralocorticoid replacement when aldosterone deficiency is present. Requires regular monitoring of blood pressure and serum electrolytes.
Additional treatment options
Comprehensive Genetic Testing and Counseling
Molecular genetic testing to confirm NR5A1 mutations with family screening. Provides prognostic information and guides reproductive counseling.
monitoringStress Dose Management Protocol
Written protocol for increasing glucocorticoid doses during physical stress, illness, or medical procedures. Education for patient and caregivers on adrenal crisis prevention.
lifestyleSodium and Caloric Supplementation
Increased dietary sodium intake and regular meal schedules to prevent hypoglycemia and maintain electrolyte balance.
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 Adrenal Insufficiency Nr5a1 Related C4479664?
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, Arlt W, Auchus RJ, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018.
Ferraz-de-Souza B, Lin L, Achermann JC. Steroidogenic factor-1 (SF-1, NR5A1) and human disease. Mol Cell Endocrinol. 2011.
Flück CE, Pandey AV. Clinical and molecular consequences of NR5A1 mutations. Horm Res Paediatr. 2022.
Bashamboo A, McElreavey K. NR5A1 and disorders of sex development. Semin Reprod Med. 2020.
Medication Comparisons
Compare medications used to treat Adrenal Insufficiency Nr5a1 Related C4479664. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy