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Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:59 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Features include always present findings: Elevated circulating luteinizing hormone level, Decreased circulating follicle stimulating hormone concentration, Infertility, and Primary amenorrhea; and sometimes findings: Decreased muscle mass. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Hormones | 3 | Infertility, Hypogonadism, Primary amenorrhea |
Bones and joints | 1 | Delayed skeletal maturation |
Muscles | 1 | Decreased muscle mass |
Lab test results | 1 | Elevated circulating luteinizing hormone level |
Brain and nerves | 1 | Changes in sense of smell (abnormality of the sense of smell) |
FSHB encodes follicle stimulating hormone subunit beta (129 aa). Together with the alpha chain CGA constitutes follitropin, the follicle-stimulating hormone, and provides its biological specificity to the hormone heterodimer. Highest expression in Pituitary (146.0 TPM) and Brain Amygdala (0.2 TPM).
Hypogonadotropic hypogonadism 24 without anosmia is associated with mutations in the FSHB gene on chromosome 11.
FSHB is classified as a druggable target (Druggable Genome category) with score 17.4.
Genetic testing for FSHB is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for hypogonadotropic hypogonadism 24 without anosmia has been reported in the published literature.
Phenotype severity distribution: 4 always present features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for hypogonadotropic hypogonadism 24 without anosmia.
8 publications have been identified in PubMed for hypogonadotropic hypogonadism 24 without anosmia. Research spans Review / Meta-Analysis (38%), Case Report / Case Series (38%), and Diagnostic / Biomarker (25%).
Graziani A (2026). [PMID: 42157550](https://pubmed.ncbi.nlm.nih.gov/42157550/). *Andrology*. [Diagnostic / Biomarker]
Menekse B (2026). [PMID: 41623313](https://pubmed.ncbi.nlm.nih.gov/41623313/). *Exp Ther Med*. [Case Report / Case Series]
Zikopoulos A (2026). [PMID: 42072331](https://pubmed.ncbi.nlm.nih.gov/42072331/). *Biomedicines*. [Review / Meta-Analysis]
Bier S (2026). [PMID: 40105106](https://pubmed.ncbi.nlm.nih.gov/40105106/). *Andrology*. [Diagnostic / Biomarker]
Graziani A (2026). [PMID: 40304702](https://pubmed.ncbi.nlm.nih.gov/40304702/). *Andrology*. [Review / Meta-Analysis]
Tseung JSB (2025). [PMID: 40441342](https://pubmed.ncbi.nlm.nih.gov/40441342/). *Clin Chim Acta*. [Case Report / Case Series]
Soares DM (2025). [PMID: 41631229](https://pubmed.ncbi.nlm.nih.gov/41631229/). *Cureus*. [Case Report / Case Series]
Grande G (2024). [PMID: 39202711](https://pubmed.ncbi.nlm.nih.gov/39202711/). *Life (Basel)*. [Review / Meta-Analysis]