Living with 46,XX disorder of sex development-skeletal anomalies syndrome
A rare condition that affects sexual development and the skeleton, with a typical female chromosome pattern.
Understanding 46,XX disorder of sex development-skeletal anomalies syndrome
People have a 46,XX chromosome pattern with regular ovaries, fallopian tubes, and a uterus. Features include periods that have not started (primary amenorrhea) and genitals that are not clearly typical, such as an enlarged clitoris. Skeletal differences include small jaw and upper jaw bones, and dislocated elbow bones.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- No periods (primary amenorrhea)
- Enlarged clitoris
- Fused inner lips (labia minora)
- Small lower jaw (micrognathia)
- Dislocated radial head (forearm)
- Deformed upper arm bone
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 rare disease patient organizations for support
- 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. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: female pseudohermaphroditism-skeletal anomalies syndrome; pseudohermaphroditism, female, with skeletal anomalies
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with 46,XX disorder of sex development-skeletal anomalies syndrome.
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