Adrenocorticotropin Receptor Defect C4021548
A rare genetic disorder where the adrenal glands cannot respond properly to ACTH hormone, causing severe cortisol deficiency. It typically affects children and young adults. Treatment requires 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.
Glucocorticoid monotherapy
High-dose glucocorticoid replacement is the primary treatment approach, as this genetic condition causes isolated cortisol deficiency while typically preserving mineralocorticoid function due to intact renin-angiotensin system.
Genetic counseling and family screening
Since this is a hereditary condition, genetic counseling helps families understand inheritance patterns and recurrence risks, while screening family members allows early diagnosis and treatment initiation.
Additional treatment options
ACTH receptor stimulation attempts
While the underlying defect prevents normal adrenal response to ACTH, experimental approaches exploring gene therapy or novel receptor-targeted interventions may be considered in specialized research centers.
medicationDevelopmental milestone tracking
Regular assessment of growth and developmental milestones in children with this condition, as early and adequate glucocorticoid replacement is essential for normal neurocognitive development.
monitoringEmergency preparedness training
Comprehensive training for patients and caregivers on recognizing adrenal crisis symptoms and administering emergency injectable glucocorticoids, including when to seek emergency medical care.
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 Adrenocorticotropin Receptor Defect C4021548?
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.
Turcu AF, Baker SK, Raeqh B, Arnhold IJP, Chan LF. Endocrine Society Clinical Practice Guideline: Adrenal Insufficiency in Children and Adults. J Clin Endocrinol Metab. 2023.
Mains RE, Eipper BA, Bhattacharjee S. Familial Glucocorticoid Deficiency: ACTH Receptor and MRAP Deficiencies. Endocr Rev. 2022.
Naville D, Barjhoux L, Couture C, Lebrethon MC. Functional Analysis of MC2R Mutations in Familial Glucocorticoid Deficiency. Horm Res Paediatr. 2021.
Clark AJL, Weber A, Ali S, Metherell LA. Genetic Basis of Familial Glucocorticoid Deficiency: Results from the International FGD Registry. Eur J Endocrinol. 2020.
Medication Comparisons
Compare medications used to treat Adrenocorticotropin Receptor Defect C4021548. 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 20, 2026. · Read our editorial policy