Overview
Isolated follicle stimulating hormone (FSH) deficiency is a rare hormonal disorder where the body does not produce enough of a hormone called FSH. FSH is made by the pituitary gland, a small gland at the base of the brain, and it plays a key role in sexual development and reproduction. Without enough FSH, the body cannot properly develop the reproductive system or maintain fertility. This condition is sometimes called isolated FSH deficiency or selective FSH deficiency. In women, low FSH leads to problems with the menstrual cycle, often causing periods to stop or never start properly. The ovaries may not develop eggs normally, making it very difficult or impossible to become pregnant without treatment. In men, FSH deficiency causes the testes to produce little or no sperm, leading to infertility. Some men may also notice that their testes are smaller than usual. The good news is that this condition can often be treated effectively with hormone replacement therapy. Doctors can prescribe FSH in the form of injections to help restore reproductive function. With the right treatment, many people with this condition are able to have children. Regular follow-up with a hormone specialist is important to manage symptoms and monitor overall health.
Also known as:
Key symptoms:
Absent or very irregular menstrual periods in womenInability to get pregnant or father a child (infertility)Little or no sperm production in menSmaller than normal testes in menDelayed puberty or incomplete sexual developmentLow or absent sex driveUnderdeveloped ovaries in womenFailure of eggs to mature normallyNormal levels of other pituitary hormones (LH, TSH, etc.)
Clinical phenotype terms (22)— hover any for plain English
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 Isolated follicle stimulating hormone deficiency.
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Specialists
View all specialists →No specialists are currently listed for Isolated follicle stimulating hormone deficiency.
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
No travel grants are currently matched to Isolated follicle stimulating hormone deficiency.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What blood tests do I need to confirm my FSH levels, and how often should they be checked?,Should I have genetic testing for the FSHB gene, and what does a positive result mean for my family members?,What fertility treatment options are available to me, and what are my realistic chances of having a biological child?,Do I need estrogen or other hormone replacement therapy to protect my bone health?,How will this condition affect me as I get older, and what long-term monitoring do I need?,Are there any support groups or patient communities for people with FSH deficiency?,Should my siblings or other family members be tested for this condition?
Common questions about Isolated follicle stimulating hormone deficiency
What is Isolated follicle stimulating hormone deficiency?
Isolated follicle stimulating hormone (FSH) deficiency is a rare hormonal disorder where the body does not produce enough of a hormone called FSH. FSH is made by the pituitary gland, a small gland at the base of the brain, and it plays a key role in sexual development and reproduction. Without enough FSH, the body cannot properly develop the reproductive system or maintain fertility. This condition is sometimes called isolated FSH deficiency or selective FSH deficiency. In women, low FSH leads to problems with the menstrual cycle, often causing periods to stop or never start properly. The ova
How is Isolated follicle stimulating hormone deficiency inherited?
Isolated follicle stimulating hormone deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.