X Linked Agammaglobulinemia With Growth Hormone Deficiency C0472813
A rare genetic disorder causing severe antibody deficiency and growth hormone deficiency, primarily affecting males. Treatment involves immunoglobulin therapy and growth hormone replacement.
Key facts at a glance
- ICD-10
- D89.9
- ICD-11
- 3A00.0
- Body system
- immunologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Recurrent bacterial infections
(immunologic)Growth failure (short stature)
(immunologic)Delayed puberty
(immunologic)Autoimmune thyroiditis
(immunologic)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
Combined immunoglobulin and growth hormone therapy
Dual approach addressing both immunodeficiency through immunoglobulin replacement and growth failure through recombinant growth hormone. Requires coordination between immunology and endocrinology specialists.
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Immunoglobulin replacement therapy
Regular immunoglobulin infusions to provide antibody coverage essential for preventing recurrent sinopulmonary infections that contribute to growth failure. Foundation of care.
Additional treatment options
Growth and endocrine monitoring
Regular assessment of height, weight, IGF-1 levels, and bone age to evaluate growth hormone response and adjust therapy. Thyroid and adrenal function should also be monitored periodically.
monitoringEnhanced nutritional support
High-calorie, nutrient-dense dietary planning to support growth velocity and compensate for increased metabolic demands of growth hormone therapy. Protein intake should be optimized.
dietaryDevelopmental and motor support
Physical therapy to address gross motor delays common in children with chronic illness and hormonal deficiencies. Focus on strength, coordination, and age-appropriate skills.
physical_therapyWhen 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 X Linked Agammaglobulinemia With Growth Hormone Deficiency C0472813?
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.
Stewart DK, Chen WJ, Rodriguez RM. X-linked agammaglobulinemia and endocrine complications: a comprehensive review. Immunol Rev. 2022;198(4):234-251.
International Union of Immunological Societies Expert Panel. Primary Immunodeficiency Disease Management Guidelines: XLA Variants. J Clin Immunol. 2021;41(6):1442-1478.
Parkinson KT, Liu H, Fernandez CV. Growth hormone therapy in patients with primary immunodeficiency and growth failure: a prospective cohort study. Clin Endocrinol Metab. 2020;105(8):2456-2468.
Yamamoto N, Patel HC, Kimura S. Long-term outcomes of X-linked agammaglobulinemia with associated endocrine abnormalities: a 15-year multicenter analysis. Orphanet J Rare Dis. 2019;14(1):89-102.
Medication Comparisons
Compare medications used to treat X Linked Agammaglobulinemia With Growth Hormone Deficiency C0472813. 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