Overview
Rare male infertility due to hypothalamic-pituitary-gonadal (HPG) axis disorder is a condition in which the hormonal signaling system that controls male reproductive function does not work properly. The HPG axis is a chain of communication between three parts of the body: the hypothalamus (a region in the brain), the pituitary gland (a small gland at the base of the brain), and the gonads (the testes in men). When this axis is disrupted, the testes may not receive the right hormonal signals to produce sperm or testosterone adequately, leading to infertility and sometimes other signs of low testosterone such as reduced sex drive, fatigue, or incomplete puberty. This condition can be caused by genetic mutations affecting one or more parts of the HPG axis. Some forms are present from birth and may be noticed when a boy does not go through puberty on time, while other forms may appear later in adulthood when a man has difficulty fathering children. The severity varies widely depending on the underlying cause. Treatment typically focuses on hormone replacement therapy to restore normal testosterone levels and, in many cases, gonadotropin therapy (injections of hormones like FSH and hCG) to stimulate sperm production. With appropriate treatment, some men with this condition can achieve fertility. Early diagnosis and management by a specialized team are important for the best outcomes.
Also known as:
Key symptoms:
Inability to father children (infertility)Delayed or absent pubertySmall testesLow sex driveErectile dysfunctionReduced facial or body hairFatigue or low energyDecreased muscle massMood changes or depressionBreast tissue enlargement (gynecomastia)Low sperm count or absent sperm in semenReduced bone density
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 Rare male infertility due to hypothalamic-pituitary-gonadal axis 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
Travel Grants
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Caregiver Resources
NORD Caregiver Resources
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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 is the specific cause of my HPG axis disorder, and is genetic testing recommended?,What are my chances of achieving fertility with gonadotropin therapy?,How long will it take before we know if fertility treatment is working?,Should I consider sperm banking or assisted reproductive technologies?,What are the long-term health risks of low testosterone, and how will treatment help?,Are there any clinical trials or newer treatments I should know about?,Should my family members be tested for the same genetic condition?
Common questions about Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
What is Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder?
Rare male infertility due to hypothalamic-pituitary-gonadal (HPG) axis disorder is a condition in which the hormonal signaling system that controls male reproductive function does not work properly. The HPG axis is a chain of communication between three parts of the body: the hypothalamus (a region in the brain), the pituitary gland (a small gland at the base of the brain), and the gonads (the testes in men). When this axis is disrupted, the testes may not receive the right hormonal signals to produce sperm or testosterone adequately, leading to infertility and sometimes other signs of low tes