Overview
Rare male infertility due to an adrenal disorder of genetic origin is a condition where a man is unable to father children because of problems caused by a genetic defect affecting the adrenal glands. The adrenal glands sit on top of the kidneys and produce important hormones, including those that help control the body's stress response, salt and water balance, and sex hormone levels. When a genetic mutation disrupts how these glands work, it can throw off the delicate hormonal balance needed for sperm production and normal male reproductive function. The most well-known cause in this category is Congenital Adrenal Hyperplasia (CAH), particularly forms caused by mutations in genes like CYP21A2. In CAH, the adrenal glands overproduce certain hormones (like androgens) while underproducing others (like cortisol). This hormonal imbalance can suppress the signals from the brain that are needed to stimulate sperm production in the testes, leading to infertility. Men may also develop benign testicular tumors called testicular adrenal rest tumors (TARTs), which can physically block or damage sperm-producing tissue. Symptoms can vary widely depending on the specific genetic cause and how severely the adrenal glands are affected. Treatment focuses on correcting the hormonal imbalance, usually with steroid medications, and addressing any structural problems in the testes. With proper management, some men may recover fertility, though outcomes vary. This condition is sometimes referred to as adrenal-related male infertility or CAH-associated male infertility.
Key symptoms:
Inability to father children (infertility)Low sperm count or no sperm in semenLumps or swelling in the testicles (testicular adrenal rest tumors)Fatigue and low energyReduced sex drive (low libido)Erectile difficultiesSmall testicle sizeHormonal imbalances detected on blood testsSalt craving (in some forms)Abnormal body hair patternsAcneWeight changes
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 Rare male infertility due to adrenal disorder of genetic origin.
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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
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Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene mutation is causing my adrenal disorder, and how does that affect my fertility options?,Can adjusting my steroid medication improve my sperm count, and how long might that take?,Do I have testicular adrenal rest tumors, and if so, how are they affecting my fertility?,What assisted reproductive options are available to me if medication alone does not restore my fertility?,What are the 'sick day rules' I need to follow, and how do I use an emergency hydrocortisone injection?,Should my siblings or other family members be tested for the same genetic condition?,Are there any clinical trials or new treatments I should know about for adrenal-related male infertility?
Common questions about Rare male infertility due to adrenal disorder of genetic origin
What is Rare male infertility due to adrenal disorder of genetic origin?
Rare male infertility due to an adrenal disorder of genetic origin is a condition where a man is unable to father children because of problems caused by a genetic defect affecting the adrenal glands. The adrenal glands sit on top of the kidneys and produce important hormones, including those that help control the body's stress response, salt and water balance, and sex hormone levels. When a genetic mutation disrupts how these glands work, it can throw off the delicate hormonal balance needed for sperm production and normal male reproductive function. The most well-known cause in this category
How is Rare male infertility due to adrenal disorder of genetic origin inherited?
Rare male infertility due to adrenal disorder of genetic origin follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.