Living with Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
A rare genetic condition linked to the CYP11A1 gene, affecting adrenal hormones and sexual development.
Understanding Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
GARD lists features that involve how the body develops sexually and how hormones work, such as unusual sex development and a high level of a hormone called ACTH. It may begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Differences in sex development
- No secondary sex characteristics
- Absent uterus
- High ACTH hormone level
- Differences in the Leydig cells (testis hormone cells)
- Problems during development before birth
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 and hormone 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)
- 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. The condition is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: inherited isolated adrenal insufficiency due to partial cytochrome p450 family 11 subfamily a member 1 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
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Perspectives from people navigating life with Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency.
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