Overview
Generalized glucocorticoid resistance syndrome (also called Chrousos syndrome or primary cortisol resistance) is a rare inherited condition where the body's cells do not respond properly to cortisol, the main stress hormone made by the adrenal glands. Cortisol plays a vital role in managing stress, blood sugar, inflammation, and many other body functions. In this condition, a genetic change in the glucocorticoid receptor — the 'docking station' that cortisol attaches to — means the hormone cannot do its job properly. Because the body senses that cortisol is not working well enough, it tries to compensate by producing much more of it. This leads to very high levels of cortisol and related hormones in the blood. The extra hormones spill over and activate other hormone pathways, particularly those involving androgens (male-type hormones) and mineralocorticoids (hormones that control salt and blood pressure). This causes a wide range of symptoms depending on age and sex. Symptoms can include high blood pressure, low potassium levels, fatigue, and signs of excess male hormones such as acne, irregular periods in women, or early puberty in children. Importantly, despite very high cortisol levels, people with this condition do NOT develop the typical features of Cushing's syndrome (like weight gain and stretch marks), because the cortisol is not working effectively at the cellular level. Treatment focuses on giving high doses of a synthetic steroid (like dexamethasone) to suppress the overproduction of these hormones and relieve symptoms.
Key symptoms:
High blood pressure (hypertension)Low potassium levels in the bloodExtreme tiredness and fatigueAcne or oily skinIrregular or absent menstrual periods in womenExcess body or facial hair in women (hirsutism)Enlarged clitoris in females (clitoromegaly)Early puberty in children (precocious puberty)Infertility in both men and womenHeadachesMuscle weaknessAnxiety or mood changesSwelling due to fluid retention
Clinical phenotype terms (21)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Generalized glucocorticoid resistance syndrome.
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Specialists
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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 Generalized glucocorticoid resistance syndrome.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What dose of dexamethasone do I need, and how will we know if it is working?,How often should I have blood tests to check my hormone and potassium levels?,What should I do if I become seriously ill or need surgery — do I need extra steroid doses?,Should other family members be tested for this condition?,Will this condition affect my ability to have children, and are there treatments that can help?,Are there any long-term risks to my heart or kidneys, and how can I reduce them?,Should I wear a medical alert bracelet, and what information should it include?
Common questions about Generalized glucocorticoid resistance syndrome
What is Generalized glucocorticoid resistance syndrome?
Generalized glucocorticoid resistance syndrome (also called Chrousos syndrome or primary cortisol resistance) is a rare inherited condition where the body's cells do not respond properly to cortisol, the main stress hormone made by the adrenal glands. Cortisol plays a vital role in managing stress, blood sugar, inflammation, and many other body functions. In this condition, a genetic change in the glucocorticoid receptor — the 'docking station' that cortisol attaches to — means the hormone cannot do its job properly. Because the body senses that cortisol is not working well enough, it tries t