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Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.
Features include always present findings: Decreased circulating luteinizing hormone level, Decreased serum testosterone concentration, Decreased circulating dihydrotestosterone concentration, and Elevated circulating follicle stimulating hormone level and others; and common findings: Gynecomastia. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Hormones | 4 | Hypogonadotropic hypogonadism, Secondary amenorrhea, Delayed puberty |
Lab test results | 2 | Decreased circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level |
Brain and nerves | 1 | Changes in sense of smell (abnormality of the sense of smell) |
LHB encodes luteinizing hormone subunit beta (141 aa). Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids Highest expression in Pituitary (3,094 TPM) and Testis (8.6 TPM).
Hypogonadotropic hypogonadism 23 with or without anosmia is associated with mutations in the LHB gene on chromosome 19.
LHB is classified as a druggable target (Druggable Genome and Hormone Activity categories) with score 0.0.
Genetic testing for LHB is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for hypogonadotropic hypogonadism 23 with or without anosmia has been reported in the published literature.
Phenotype severity distribution: 8 always present features, 1 common feature.
No clinical trials have been registered for hypogonadotropic hypogonadism 23 with or without anosmia.
202 publications have been identified in PubMed for hypogonadotropic hypogonadism 23 with or without anosmia. Kisho has analyzed 129 by research type. Research spans Review / Meta-Analysis (39%), Clinical Trial Publication (18%), and Epidemiology / Natural History (18%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 50 | 39% |
Clinical study results | 23 | 18% |
Disease patterns and progression | 23 | 18% |
Laboratory research | 18 | 14% |
Patient case studies | 9 | 7% |
Testing and diagnosis research | 6 | 5% |
Sonne J (2026). [PMID: 30855798](https://pubmed.ncbi.nlm.nih.gov/30855798/). *Unknown Journal*. [Review / Meta-Analysis]
Jokiranta ST (2026). [PMID: 40915391](https://pubmed.ncbi.nlm.nih.gov/40915391/). *Immunol Lett*. [Epidemiology / Natural History]
Mullol J (2026). [PMID: 41493192](https://pubmed.ncbi.nlm.nih.gov/41493192/). *Int Forum Allergy Rhinol*. [Clinical Trial Publication]
Bove R (2026). [PMID: 41766753](https://pubmed.ncbi.nlm.nih.gov/41766753/). *Neurol Clin Pract*. [Review / Meta-Analysis]
Lubis JYG (2026). [PMID: 42111331](https://pubmed.ncbi.nlm.nih.gov/42111331/). *Int J Womens Health*. [Case Report / Case Series]
Obiefuna S (2026). [PMID: 32119409](https://pubmed.ncbi.nlm.nih.gov/32119409/). *Unknown Journal*. [Epidemiology / Natural History]
Li X (2026). [PMID: 29489163](https://pubmed.ncbi.nlm.nih.gov/29489163/). *Unknown Journal*. [Clinical Trial Publication]
Liu R (2026). [PMID: 42116594](https://pubmed.ncbi.nlm.nih.gov/42116594/). *J Gerontol A Biol Sci Med Sci*. [Epidemiology / Natural History]
Chiodini I (2026). [PMID: 42095177](https://pubmed.ncbi.nlm.nih.gov/42095177/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]
Bal DS (2026). [PMID: 41168375](https://pubmed.ncbi.nlm.nih.gov/41168375/). *J Sex Med*. [Diagnostic / Biomarker]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:54 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center