hypogonadotropic hypogonadism
Findings
No curated finding names hypogonadotropic hypogonadism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.
Definition from the Mondo Disease Ontology (MONDO:0018555), read 2026-09-29. CC BY 4.0.
Features
38 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.
- Abnormality of the voiceHPOHP:0001608
- Very frequent (80% to 99% of cases)
- Absence of pubertal developmentHPOHP:0008197
- Very frequent (80% to 99% of cases)
- Absence of secondary sex characteristicsHPOHP:0008187
- Very frequent (80% to 99% of cases)
- AzoospermiaHPOHP:0000027
- Very frequent (80% to 99% of cases)
- Breast hypoplasiaHPOHP:0003187
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Decreased serum testosterone concentrationHPOHP:0040171
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Eunuchoid habitusHPOHP:0003782
- Very frequent (80% to 99% of cases)
- Female hypogonadismHPOHP:0000134
- Very frequent (80% to 99% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Very frequent (80% to 99% of cases)
Show the remaining 26
- ImpotenceHPOHP:0000802
- Very frequent (80% to 99% of cases)
- Increased female libidoHPOHP:0030019
- Very frequent (80% to 99% of cases)
- Male hypogonadismHPOHP:0000026
- Very frequent (80% to 99% of cases)
- MicropenisHPOHP:0000054
- Very frequent (80% to 99% of cases)
- Non-obstructive azoospermiaHPOHP:0011961
- Very frequent (80% to 99% of cases)
- Phenotypic abnormalityHPOHP:0000118
- Very frequent (80% to 99% of cases)
Genes
21 genes
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.
- KLBHGNC:15527
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PLXNA3HGNC:9101
- Strong · PanelApp Australia · X-linked · 2025
- SEMA3FHGNC:10728
- Strong · PanelApp Australia · Autosomal dominant · 2025
- CHD7HGNC:20626
- Supportive · Orphanet · Autosomal dominant · 2021
- DUSP6HGNC:3072
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (10)
- congenital hypogonadotropic hypogonadism
- hypogonadotropic hypogonadism 10 with or without anosmia
- hypogonadotropic hypogonadism 12 with or without anosmia
- hypogonadotropic hypogonadism 13 with or without anosmia
- hypogonadotropic hypogonadism 23 with or without anosmia
- hypogonadotropic hypogonadism 24 without anosmia
- hypogonadotropic hypogonadism 25 with anosmia
- hypogonadotropic hypogonadism 26 with or without anosmia
- hypogonadotropic hypogonadism 27 without anosmia
- Kallmann syndrome
Other names
9 names
Resolves to: hypogonadotropic hypogonadism
- Also called
- central hypogonadismgonadotropic deficiencyhypogonadism, hypogonadotropichypogonadotropic hypogonadism with or without anosmialow gonadotropins (secondary hypogonadism)nIHHnormosmic congenital hypogonadotropic hypogonadismNormosmic idiopathic hypogonadotropic hypogonadismsecondary hypogonadism