Living with Congenital absence of germinal epithelium of testes
A condition, also called spermatogenic failure, X-linked, 1, where the testicles make no sperm, causing male infertility.
Understanding Congenital absence of germinal epithelium of testes
Only Sertoli cells line the testicle tubes where sperm develop, so no sperm are made. Men usually find out when they are tested for infertility and have no sperm in their semen (azoospermia). Other symptoms are rare. Most cases have an unknown cause. A testicular biopsy confirms the diagnosis.
Signs & symptoms
GARD lists few symptoms for this condition. The summary describes:
- No sperm in the semen (azoospermia)
- 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
Your doctor may refer you to a specialist who knows rare conditions.
- 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
- A doctor familiar with rare conditions, plus specialists as needed
- 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 Resolve: The National Infertility Association
- 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
Most cases have no known cause. Possible causes include missing parts of the Y chromosome (the AZF region), chemical or toxin exposure, radiation therapy and severe trauma. GARD lists autosomal dominant and X-linked inheritance.
Also known as: del castillo syndrome; germ cell aplasia; germinal cell aplasia; sertoli cell only syndrome; sertoli cell-only syndrome; spermatogenic failure, x-linked, type 1
Patient organizations
- Resolve: The National Infertility AssociationCongenital absence of germinal epithelium of testes · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital absence of germinal epithelium of testes.
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