Overview
Rare male infertility due to adrenal disorder is an uncommon condition in which problems with the adrenal glands — small organs that sit on top of the kidneys — lead to difficulty fathering children. The adrenal glands produce important hormones, including cortisol (the stress hormone), aldosterone (which helps control blood pressure and salt balance), and androgens (male-type hormones). When the adrenal glands do not work properly, the balance of these hormones can be disrupted in ways that interfere with sperm production, sperm quality, or the normal function of the male reproductive system. The most well-known adrenal disorder linked to male infertility is congenital adrenal hyperplasia (CAH), particularly the form caused by 21-hydroxylase deficiency. In CAH, the adrenal glands overproduce androgens, which can paradoxically suppress the signals from the brain (specifically the pituitary gland) that tell the testes to make sperm. Some men with CAH also develop testicular adrenal rest tumors (TARTs), which are benign growths of adrenal-like tissue inside the testes that can physically damage the sperm-producing tissue. Symptoms may include difficulty conceiving, low sperm count, abnormal hormone levels, and sometimes testicular lumps. Treatment focuses on correcting the underlying hormonal imbalance, usually with glucocorticoid replacement therapy, and may also involve fertility treatments such as assisted reproduction. Early diagnosis and consistent hormone management can significantly improve fertility outcomes for affected men.
Key symptoms:
Difficulty getting a partner pregnantLow sperm count or poor sperm qualityLumps or swelling in the testiclesSmall testicle sizeAbnormal hormone levels on blood testsEarly puberty or signs of excess male hormones in childhoodFatigue or low energyShort adult height compared to family membersDarkening of the skin in some casesLow sex driveErectile difficultiesSalt cravings or episodes of dehydration (in salt-wasting forms)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Rare male infertility due to adrenal disorder.
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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.What specific type of adrenal disorder is causing my infertility, and what gene is involved?,Do I have testicular adrenal rest tumors, and if so, how are they being monitored?,What are my realistic chances of fathering a child with treatment?,Should I see a reproductive endocrinologist or fertility specialist in addition to my endocrinologist?,What are the risks and side effects of long-term glucocorticoid therapy?,When should I use stress dosing of my medication, and do I need an emergency injection kit?,Should my partner or family members be tested for carrier status of this genetic condition?
Common questions about Rare male infertility due to adrenal disorder
What is Rare male infertility due to adrenal disorder?
Rare male infertility due to adrenal disorder is an uncommon condition in which problems with the adrenal glands — small organs that sit on top of the kidneys — lead to difficulty fathering children. The adrenal glands produce important hormones, including cortisol (the stress hormone), aldosterone (which helps control blood pressure and salt balance), and androgens (male-type hormones). When the adrenal glands do not work properly, the balance of these hormones can be disrupted in ways that interfere with sperm production, sperm quality, or the normal function of the male reproductive system.
How is Rare male infertility due to adrenal disorder inherited?
Rare male infertility due to adrenal disorder follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Rare male infertility due to adrenal disorder typically begin?
Typical onset of Rare male infertility due to adrenal disorder is adult. Age of onset can vary across affected individuals.