Autoimmune Polyglandular Syndrome Type 1 With Reversible Metaphyseal Dysplasia C2749602
A rare genetic syndrome combining autoimmune endocrine disorders with bone growth abnormalities in children. Usually appears in early childhood. Treatment includes hormone replacement and bone health 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.
Hormone replacement therapy
Comprehensive replacement of deficient hormones including parathyroid hormone, adrenal hormones, and pancreatic hormones as indicated by testing.
Calcium and vitamin D supplementation
Supplemental calcium and active vitamin D to maintain bone health and address metaphyseal dysplasia while supporting reversible bone changes.
Additional treatment options
Skeletal rehabilitation program
Targeted physical therapy to support bone healing, improve mobility, and prevent deformity during recovery from metaphyseal dysplasia.
physical_therapyBisphosphonate therapy
Bone-resorptive medications to support bone density and structural integrity when osteoporosis or osteopenia is present.
medicationRadiographic monitoring
Regular imaging to assess metaphyseal dysplasia resolution and bone structure recovery through X-rays or DEXA scans.
monitoringWhen 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 Autoimmune Polyglandular Syndrome Type 1 With Reversible Metaphyseal Dysplasia C2749602?
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.
Perheentupa J, Miettinen PJ. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: A Model Disease for Understanding Primary Autoimmunity. Endocr Rev. 2019.
Husebye ES, Anderson MS, Kampe O. Endocrine Society Clinical Practice Guideline: Management of Autoimmune Polyendocrinopathies. J Clin Endocrinol Metab. 2021.
Betterle C, Garelli S, Coco G, Buratto G. Long-term Follow-up and Outcomes in Autoimmune Polyglandular Syndrome Type 1: A Longitudinal Cohort Study. Front Endocrinol. 2020.
Ferrara F, De Luca C, Ruggiero G, Chermat F. Skeletal Manifestations in Autoimmune Polyglandular Syndrome Type 1: Reversible Metaphyseal Dysplasia and Bone Health Considerations. Bone. 2022.
Medication Comparisons
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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