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hypogonadotropic hypogonadism 27 without anosmia (HH27) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypogonadotropic hypogonadism 27 without anosmia

MONDO:0030684

Also known as:HH27

Overview

GeneticsAutosomal recessive · NHLH2 (chr 1)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased circulating luteinizing hormone level, Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration, and Reduced response to gonadotropin-releasing hormone stimulation test and others. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	1	Decreased circulating luteinizing hormone level

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NHLH2 encodes nescient helix-loop-helix 2 (135 aa). Transcription factor which binds the E box motif 5'-CA[TC][AG]TG-3'. Highest expression in Brain Cerebellar Hemisphere (8.1 TPM) and Brain Cerebellum (7.3 TPM).

Hypogonadotropic hypogonadism 27 without anosmia is associated with mutations in the NHLH2 gene on chromosome 1.

NHLH2 is classified as a druggable target (Transcription Factor Complex category) with score 0.0.

Diagnosis

Genetic testing for NHLH2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypogonadotropic hypogonadism 27 without anosmia.

4 publications have been identified in PubMed for hypogonadotropic hypogonadism 27 without anosmia. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Taniguchi K (2025). [PMID: 40084328](https://pubmed.ncbi.nlm.nih.gov/40084328/). *Cureus*. [Case Report / Case Series]
Rey RA (2025). [PMID: 41312956](https://pubmed.ncbi.nlm.nih.gov/41312956/). *Arch Endocrinol Metab*. [Review / Meta-Analysis]
Taliercio V (2025). [PMID: 40317671](https://pubmed.ncbi.nlm.nih.gov/40317671/). *Am J Med Genet A*. [Case Report / Case Series]
McGlacken-Byrne SM (2025). [PMID: 40328871](https://pubmed.ncbi.nlm.nih.gov/40328871/). *Sci Rep*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619755

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hypogonadotropic hypogonadism 27 without anosmia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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