Living with X-linked acrogigantism due to Xq26 microduplication
A rare genetic condition with very fast growth in infancy and childhood caused by too much growth hormone.
Understanding X-linked acrogigantism due to Xq26 microduplication
Overgrowth usually begins in the first year of life in previously typical infants. It comes from too much growth hormone due to an enlarged pituitary gland or a usually benign pituitary tumor. Most cases are a single occurrence in a family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tall stature
- Too much growth hormone
- Pituitary gland tumor or enlargement
- Sleep apnea and snoring
- Heavy sweating
- Very large appetite
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 GPR101 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 extra genetic material at Xq26.3 on the X chromosome, which involves the GPR101 gene. It is inherited in an X-linked way, but most cases occur only once in a family.
Also known as: chromosome xq26 microduplication syndrome; chromosome xq26.3 duplication syndrome; chromosome xq26.3 duplication syndrome, x-linked dominant; familial infantile gigantism due to dup(x)q(26); familial infantile gigantism due to xq26 microduplication; x-lag (x-linked acrogigantism) due to dup(x)q(26)
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked acrogigantism due to Xq26 microduplication.
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