Living with Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
A rare genetic condition with low adrenal hormones and differences in genital development, starting in newborns and infants.
Understanding Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Severe cases show early salt-wasting adrenal insufficiency and ambiguous or female external genitalia. Milder cases may start later, and in people with an XY karyotype the genitalia can range from typical male to female. Imaging shows small or missing adrenal glands.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low adrenal hormones (adrenal insufficiency)
- Differences in external genitalia
- Dehydration and low blood volume
- Delayed puberty
- Delayed bone maturation
- Reduced fertility
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 CYP11A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
Changes in the CYP11A1 gene are listed. GARD lists both autosomal dominant and autosomal recessive inheritance.
Also known as: 46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency; adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete; adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete; cholesterol side-chain cleavage deficiency; congenital adrenal insuffiency with 46, xy sex reversal or 46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency; p450scc deficiency
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 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency.
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