hypogonadotropic hypogonadism 24 without anosmia
Findings
No curated finding names hypogonadotropic hypogonadism 24 without anosmia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.
Definition from the Mondo Disease Ontology (MONDO:0009239), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating follicle stimulating hormone concentrationHPOHP:0030341
- 2 of 2 reported patients
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 2 of 2 reported patients
- Female hypogonadismHPOHP:0000134
- Obligate (100% of cases)
- Gonadotropin deficiencyHPOHP:0008213
- Obligate (100% of cases)
- InfertilityHPOHP:0000789
- 1 of 1 reported patient
- Male hypogonadismHPOHP:0000026
- Obligate (100% of cases)
- Primary amenorrheaHPO
Show the remaining 13
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Very frequent (80% to 99% of cases)
- Sparse axillary hairHPOHP:0002215
- Very frequent (80% to 99% of cases)
- Sparse pubic hairHPOHP:0002225
- Very frequent (80% to 99% of cases)
- Abnormal sperm morphologyHPOHP:0012864
- Frequent (30% to 79% of cases)
- AzoospermiaHPOHP:0000027
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FSHBHGNC:3964
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: hypogonadotropic hypogonadism 24 without anosmia
- Also called
- FSHB hypogonadotropic hypogonadismhypogonadotropic hypogonadism caused by mutation in FSHBisolated FSH deficiency