Overview
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficiency is a rare inherited condition that affects the adrenal glands and sometimes the reproductive system. It is caused by changes (mutations) in the STAR gene, which provides instructions for making a protein called steroidogenic acute regulatory protein. This protein is essential for moving cholesterol into the part of cells where it gets converted into important hormones like cortisol, aldosterone, and sex hormones. Unlike the classic (severe) form of lipoid congenital adrenal hyperplasia, the non-classic form is milder and typically shows up later in life rather than in the newborn period. People with this condition may have partial adrenal insufficiency, meaning their adrenal glands do not produce enough cortisol or aldosterone. Symptoms can include fatigue, low blood pressure, salt cravings, and sometimes problems with puberty or fertility. Males with this condition may have normal or mildly affected genital development at birth, unlike the classic form where genetic males often have female-appearing genitalia. Females may experience irregular periods or difficulty with fertility. Treatment focuses on replacing the hormones the body cannot make enough of, primarily glucocorticoids (like hydrocortisone) and sometimes mineralocorticoids (like fludrocortisone). With proper hormone replacement therapy and regular monitoring, many individuals with the non-classic form can lead relatively normal lives. Stress dosing of steroids during illness or surgery is critically important to prevent adrenal crisis.
Key symptoms:
Fatigue and low energyLow blood pressureSalt cravingsDarkening of the skin (hyperpigmentation)Nausea or vomiting during illnessDelayed or incomplete pubertyIrregular menstrual periods in femalesFertility problemsPoor weight gain or failure to thrive in childrenDizziness or lightheadedness when standing upMuscle weaknessLow blood sugar episodes
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency.
Community
No community posts yet. Be the first to share your experience with Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency.
Start the conversation →Latest news about Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
No recent news articles for Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific STAR gene mutation does my child or I have, and what does it mean for the severity of the condition?,What are the correct daily doses of hydrocortisone and fludrocortisone, and when should they be taken?,What is the stress dosing protocol, and when exactly should I increase the medication dose?,How do I use the emergency hydrocortisone injection, and when should I go to the emergency room?,Will puberty and fertility be affected, and what can be done to help?,How often should hormone levels and overall health be monitored?,Should other family members be tested for carrier status or the condition itself?
Common questions about Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
What is Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency?
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficiency is a rare inherited condition that affects the adrenal glands and sometimes the reproductive system. It is caused by changes (mutations) in the STAR gene, which provides instructions for making a protein called steroidogenic acute regulatory protein. This protein is essential for moving cholesterol into the part of cells where it gets converted into important hormones like cortisol, aldosterone, and sex hormones. Unlike the classic (severe) form of lipoid congenital adrenal hyperplasia, the non-classic form is milder and
How is Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency inherited?
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.