Living with 45,X/46,XY mixed gonadal dysgenesis
A difference of sex development in which the gonads do not form typically, because some cells lack a Y chromosome.
Understanding 45,X/46,XY mixed gonadal dysgenesis
It is linked to a mix of cells, some with one X chromosome and some with an X and a Y. Features vary and can include genitalia that are not clearly male or female, undescended testes, and hypospadias (the urethra opening below the tip of the penis). Short stature and infertility are also listed. GARD lists onset as any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Genitalia that are not clearly male or female
- Undescended testes (cryptorchidism)
- Hypospadias
- Small penis (micropenis)
- Short stature
- 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
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.
- 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 Chromosome Disorder Outreach 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 (also called variants) cause this condition. The summary describes it as a mix of cells with different sex chromosomes (Y-chromosome mosaicism).
Also known as: 45,x/46,xy disorder of sex development; 45,x/46,xy gonadal dysgenesis; 45,x/46,xy mgd; 45,x0/46,xy mgd; 45,x0/46,xy mixed gonadal dysgenesis; xy/x0
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
- Resolve: The National Infertility AssociationInfertility · United States
You are more than your diagnosis
Perspectives from people navigating life with 45,X/46,XY mixed gonadal dysgenesis.
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