hypogonadotropic hypogonadism 23 with or without anosmia
Findings
No curated finding names hypogonadotropic hypogonadism 23 with or 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 LHB gene.
Definition from the Mondo Disease Ontology (MONDO:0009223), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Early young adult onset
HPO, annotations 2026-09-02
Features
14 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.
- AzoospermiaHPOHP:0000027
- 3 of 3 reported patients
- Decreased circulating dihydrotestosterone concentrationHPOHP:0033810
- 1 of 1 reported patient
- Decreased circulating luteinizing hormone levelHPOHP:0030344
- 3 of 3 reported patients
- Decreased serum testosterone concentrationHPOHP:0040171
- 4 of 4 reported patients
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 3 of 3 reported patients
- Male hypogonadismHPOHP:0000026
- 2 of 2 reported patients
- Sparse axillary hair
Show the remaining 2
- Delayed pubertyHPOHP:0000823
- Hypogonadotropic hypogonadismHPOHP:0000044
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.
- LHBHGNC:6584
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
10 names
Resolves to: hypogonadotropic hypogonadism 23 with or without anosmia
- Also called
- 46,XY disorder of sex development due to LHB deficiency46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency46,XY DSD due to LHB deficiency46,XY DSD due to luteinizing hormone subunit beta deficiencyfertile eunuch syndromehypogonadotropic hypogonadism caused by mutation in LHBLeydig cell hypoplasia due to LHB deficiencyLeydig cell hypoplasia due to luteinizing hormone subunit beta deficiencyLHB hypogonadotropic hypogonadismPasqualini syndrome