Living with X-linked agammaglobulinemia with growth hormone deficiency
A rare X-linked condition combining very low antibodies and B cells with short stature from low growth hormone.
Understanding X-linked agammaglobulinemia with growth hormone deficiency
It is also called isolated growth hormone deficiency type III. GARD also lists delayed bone age. Signs appear in the newborn period or infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these:
- Very low antibody levels (agammaglobulinemia)
- Low numbers of B cells
- Short stature
- Delayed bone age
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in BTK are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Raymond A. Wood Foundation and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Raymond A. Wood Foundation, Pituitary Network Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Raymond A. Wood Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the BTK gene and follows an X-linked pattern of inheritance.
Also known as: agammaglobulinemia and isolated growth hormone deficiency, x-linked; congenital ighd type iii; congenital isolated gh deficiency type iii; congenital isolated growth hormone deficiency type iii; fleisher syndrome; growth hormone deficiency with hypogammaglobulinemia
Patient organizations
- Raymond A. Wood FoundationX-linked agammaglobulinemia with growth hormone deficiency · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked agammaglobulinemia with growth hormone deficiency.
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