Living with Partial androgen insensitivity syndrome
A condition in which the body only partly responds to male sex hormones, leading to a range of differences in genital development.
Understanding Partial androgen insensitivity syndrome
It affects the reproductive and genital organs as a baby grows before birth. It happens in people with a 46,XY karyotype (the usual male chromosome pattern). Signs vary widely, causing a range of differences in how the genitals look. In milder cases, infertility may be the only sign.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Differences in how the genitals look (ambiguous genitalia)
- Opening of the urethra on the underside of the penis (hypospadias)
- Testes that haven't moved down (cryptorchidism)
- Enlarged breast tissue in males (gynecomastia)
- Infertility
- Higher testosterone and other hormone levels
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.
- 3Consider genetic testing
Changes in AR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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); Maternal-fetal medicine specialists (pregnancy-related); 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 AR gene cause this condition. It is X-linked recessive, which means the gene is on the X chromosome.
Also known as: androgen insensitivity, partial; androgen insensitivity, partial, with or without breast cancer; androgen insensitivity, partial, with or without breast cancer, x-linked recessive; androgen resistance syndrome, partial; familial incomplete male pseudohermaphroditism type 1; familial incomplete male pseudohermaphroditism, type 1
Patient organizations
- InterConnectPartial androgen insensitivity syndrome · United States
- Resolve: The National Infertility AssociationInfertility · United States
You are more than your diagnosis
Perspectives from people navigating life with Partial androgen insensitivity syndrome.
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