Living with Tetragametic chimerism
A rare condition in which a person has two sets of parental chromosomes, affecting sex development and sometimes fertility.
Understanding Tetragametic chimerism
It can lead to anything from typical male or female genitals to genitals that are not clearly male or female, and it is often linked to infertility. In twins who share a placenta but are not identical, it can be limited to the blood of both twins. It is usually noticed in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Genitals that look neither clearly male nor female
- Undescended testes (cryptorchidism)
- Short penis (micropenis)
- Enlarged clitoris (clitoral hypertrophy)
- Both ovarian and testicular tissue (ovotestis)
- Patches of lighter skin (hypopigmented patches)
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, hormone specialists, maternal-fetal medicine 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.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists)
- 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
GARD describes this condition as two different sets of maternal and paternal chromosomes in one person. It doesn't name a specific gene.
Also known as: 46,xx/46,xy chimerism; chimera 46, xx; 46, xy
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 Tetragametic chimerism.
Explore research for Tetragametic chimerism
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- Recruiting studies from ClinicalTrials.gov
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- 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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