Male infertility due to sperm disorder

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ORPHA:399771
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4Specialists8Treatment centers

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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

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Male infertility due to sperm disorder.

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No actively recruiting trials found for Male infertility due to sperm disorder at this time.

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Specialists

4 foundView all specialists →
HM
Hashim Talib T Hashim, MBChB
ROCKVILLE, MD
Specialist
PI on 2 active trials
KM
Kirk C. Lo, MD
Specialist
PI on 1 active trial
ES
Einat Shalom-Paz
Specialist
PI on 1 active trial
CD
Chris Deibert
OMAHA, NE
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

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Community

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Caregiver Resources

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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.