Living with Pure gonadal dysgenesis 46,XY
A condition, also called Swyer syndrome, in which a person with XY chromosomes develops female reproductive structures.
Understanding Pure gonadal dysgenesis 46,XY
People have one X and one Y chromosome in each cell but have female external genitalia, and usually a uterus and fallopian tubes. The gonads are small and underdeveloped (streak gonads) and don't work. Streak gonads are at risk of cancer that is hard to detect, so they are usually removed surgically. It may be found before birth, at birth, or when puberty doesn't begin as expected. Hormone replacement therapy often begins in early adolescence.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped, nonworking gonads (streak gonads)
- Female external genitalia with XY chromosomes
- Puberty that doesn't start as expected
- Low sex hormone levels (hypogonadism)
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 InterConnect
- 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 gene changes cause this condition and lists autosomal dominant, autosomal recessive, and X-linked inheritance. It doesn't name a gene here.
Also known as: 46 xy gonadal dysgenesis; 46, xy cgd; 46, xy complete gonadal dysgenesis; 46, xy pure gonadal dysgenesis; 46,xy cgd; 46,xy complete gonadal dysgenesis
Patient organizations
- InterConnectPure gonadal dysgenesis 46,XY · United States
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Perspectives from people navigating life with Pure gonadal dysgenesis 46,XY.
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