Overview
Male infertility due to sperm disorder is a broad group of rare conditions in which a man has difficulty fathering a child because of problems with his sperm. These problems can include having too few sperm (oligozoospermia), sperm that do not move well (asthenozoospermia), sperm with abnormal shapes (teratozoospermia), or a complete absence of sperm in the semen (azoospermia). Some men may have a combination of these issues. The condition is typically discovered when a couple has trouble conceiving and the man undergoes a semen analysis. The causes of these sperm disorders can be genetic, hormonal, structural, or environmental. Genetic causes include chromosomal abnormalities such as Klinefelter syndrome, Y-chromosome microdeletions, and mutations in specific genes that are important for sperm production and function. In many cases, the exact cause remains unknown, which is called idiopathic male infertility. Treatment depends on the underlying cause and severity. Options range from hormonal therapy and lifestyle changes to assisted reproductive technologies such as intrauterine insemination (IUI) and in vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI). In cases of obstructive azoospermia, surgical sperm retrieval may be possible. For men with non-obstructive azoospermia, micro-TESE (microsurgical testicular sperm extraction) can sometimes find small pockets of sperm production. Genetic counseling is recommended, especially when a genetic cause is identified, as some conditions may be passed to future children.
Key symptoms:
Inability to conceive a child after one year of tryingLow sperm count on semen analysisSperm that do not swim well or move slowlyAbnormally shaped spermComplete absence of sperm in the semenSmall or undescended testiclesReduced facial or body hair in some genetic causesSwelling or pain in the testicle areaHormonal imbalances such as low testosteroneDecreased sex drive in some casesErectile difficulties in some casesRecurrent respiratory infections (in cases related to ciliary disorders)Breast tissue enlargement in some chromosomal causes
Variable
Can be inherited in different ways depending on the underlying gene
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Male infertility due to sperm disorder.
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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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Questions for your doctor
Bring these to your next appointment
- Q1.What is the specific cause of my sperm disorder, and is it genetic?,Should I have genetic testing, and if so, what tests do you recommend?,What are my realistic chances of fathering a biological child with treatment?,Which assisted reproductive technology would be most appropriate for my situation?,If my condition is genetic, could it be passed on to my children?,Are there any lifestyle changes that could improve my sperm quality?,Should my partner and I see a genetic counselor before pursuing fertility treatment?
Common questions about Male infertility due to sperm disorder
What is Male infertility due to sperm disorder?
Male infertility due to sperm disorder is a broad group of rare conditions in which a man has difficulty fathering a child because of problems with his sperm. These problems can include having too few sperm (oligozoospermia), sperm that do not move well (asthenozoospermia), sperm with abnormal shapes (teratozoospermia), or a complete absence of sperm in the semen (azoospermia). Some men may have a combination of these issues. The condition is typically discovered when a couple has trouble conceiving and the man undergoes a semen analysis. The causes of these sperm disorders can be genetic, ho
At what age does Male infertility due to sperm disorder typically begin?
Typical onset of Male infertility due to sperm disorder is adult. Age of onset can vary across affected individuals.
Which specialists treat Male infertility due to sperm disorder?
4 specialists and care centers treating Male infertility due to sperm disorder are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.