Living with Testicular agenesis
A rare condition present at birth in which a person with male chromosomes is born without testicular tissue.
Understanding Testicular agenesis
People with this condition otherwise have a typical male appearance and typical chromosomes. A small penis is often seen. Blood tests usually show high levels of the hormones FSH and LH, and low testosterone. It is noticed in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Absent testes
- Short penis (micropenis)
- Genitals that look neither clearly male nor female
- Low testosterone
- High levels of hormones from the pituitary gland (gonadotropins)
- Urogenital sinus anomaly
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 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
Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: 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 InterConnect 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 (variants) cause this condition, but it doesn't name a specific gene.
Also known as: absent testicle (congenital); agenesis of testis; bilateral anorchia; congenital absence of testis
Patient organizations
- InterConnectTesticular agenesis · United States
- Resolve: The National Infertility AssociationInfertility · United States
You are more than your diagnosis
Perspectives from people navigating life with Testicular agenesis.
Explore research for Testicular agenesis
Explore actively recruiting Testicular agenesis studies with HealthSpark.
Find actively recruiting studies for Testicular agenesis 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Testicular agenesis studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Testicular agenesis
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Testicular agenesis experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.