Living with Persistent Mullerian duct syndrome
A condition in which males have normal male organs but also a uterus and fallopian tubes, often found during surgery for undescended testes or hernia.
Understanding Persistent Mullerian duct syndrome
People have male (46,XY) chromosomes and normal external male genitals. The uterus and fallopian tubes are usually found when surgery is done to treat undescended testes or an inguinal hernia. Some people may also have infertility or blood in the semen. It is noticed in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Undescended testes (cryptorchidism)
- Inguinal hernia (a bulge in the lower belly)
- Uterus and fallopian tubes in a male
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
Changes in the genes (also called variants) cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD doesn't list a specific gene.
Also known as: female genital ducts in otherwise normal male; hernia uteri inguinale; persistent muellerian duct syndrome; persistent mullerian derivatives; persistent mullerian duct syndrome, type i; persistent mullerian duct syndrome, type ii
Patient organizations
- InterConnectPersistent Mullerian duct syndrome · United States
- Resolve: The National Infertility AssociationInfertility · United States
You are more than your diagnosis
Perspectives from people navigating life with Persistent Mullerian duct syndrome.
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