Living with 48,XXXY syndrome
A chromosome condition in boys and men that can bring learning and speech delays, tall height, and infertility.
Understanding 48,XXXY syndrome
Most have mild intellectual disability and learning difficulties, especially with speech. They often understand speech better than they can speak. Anxiety, a short attention span, and outbursts can occur. Low muscle tone and coordination problems delay sitting, standing, and walking. They tend to be taller than peers, and male sexual development is affected. GARD lists onset as during pregnancy, at birth, and as an infant.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Attention deficit (ADHD)
- Low testosterone activity (hypogonadism)
- Small testes
- Very flexible joints
- Fused forearm bones (radioulnar synostosis)
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 brain and nervous system specialists, genetic specialists, hormone specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Association for X and Y Chromosome Variations and Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Association for X and Y Chromosome Variations, Resolve: The National Infertility 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 Association for X and Y Chromosome Variations 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
GARD says changes in genes (also called variants) cause this condition. The condition involves extra X chromosomes in boys and men.
Also known as: 48, xxxy syndrome; xxxy syndrome
Patient organizations
- Association for X and Y Chromosome Variations48,XXXY syndrome · United States
- Chromodiversity Foundation48,XXXY syndrome · Chromosome Disorder Outreach
- Resolve: The National Infertility AssociationInfertility · United States
You are more than your diagnosis
Perspectives from people navigating life with 48,XXXY syndrome.
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