National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Follicle-stimulating hormone deficiency, isolated



Other Names:
Isolated follicle-stimulating hormone (FSH) deficiency; Isolated FSH deficiency
Categories:

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Female hypogonadism 0000134
Gonadotropin deficiency 0008213
Hypogonadotropic hypogonadism 0000044
Male hypogonadism
Decreased function of male gonad
0000026
80%-99% of people have these symptoms
Decreased serum estradiol 0008214
Decreased serum testosterone level
Decreased serum testosterone levels
Low serum testosterone level
Low serum testosterone levels
[ more ]
0040171
Decreased testicular size
Small testes
Small testis
[ more ]
0008734
Delayed menarche
Delayed start of first period
0012569
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
Primary amenorrhea 0000786
Sparse axillary hair
Limited armpit hair
Little underarm hair
[ more ]
0002215
Sparse pubic hair
Decreased sexual hair
0002225
30%-79% of people have these symptoms
Abnormal sperm morphology
Abnormal shape of sperm
0012864
Azoospermia
Absent sperm in semen
0000027
Bilateral breast hypoplasia
Two underdeveloped breasts
0012814
Decreased female libido
Decreased female sex drive
0030018
Hyperplasia of the Leydig cells 0010791
Oligomenorrhea
Light or infrequent menstrual periods
0000876
Oligospermia
Low sperm count
0000798
Testicular atrophy
Testicular degeneration
0000029
5%-29% of people have these symptoms
Decreased muscle mass 0003199
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality
[ more ]
0001939
Autosomal recessive inheritance 0000007
Hypogonadism
Decreased activity of gonads
0000135
Infertility 0000789
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Follicle-stimulating hormone deficiency, isolated. Click on the link to view a sample search on this topic.

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