Living with Ring chromosome Y
A rare change in the Y chromosome that can cause short height, genital differences, and low hormone or sperm production.
Understanding Ring chromosome Y
It is mostly marked by short stature, partial or complete failure of the gonads (testes or ovaries), delayed sexual development, and genital differences. People may also have little or no sperm. Other reported features include speech delay, obesity, and a skin change called acanthosis nigricans. It is noticed at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Genital differences, including hypospadias
- Undescended testes
- Low gonad hormone function (hypogonadism)
- Absent or low sperm count
- Infertility
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- 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 Chromosome Disorder Outreach
- 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 a structural change in which the Y chromosome forms a ring. GARD does not name a gene or list an inheritance pattern.
Also known as: r(y); ring chromosome type y; ring chromosome y syndrome
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- 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 Ring chromosome Y.
Explore research for Ring chromosome Y
Explore actively recruiting Ring chromosome Y studies with HealthSpark.
Find actively recruiting studies for Ring chromosome Y with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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