Rare Rheumatology News

Disease Profile

Follicle-stimulating hormone deficiency, isolated

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adolescent

ICD-10

E23.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Isolated follicle-stimulating hormone (FSH) deficiency; Isolated FSH deficiency

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;

Symptoms

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.

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

Diagnosis

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.

Learn more

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.