hypergonadotropic hypogonadism-cataract syndrome
MONDO:0009417Mondo
Findings
No curated finding names hypergonadotropic hypogonadism-cataract syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.
Definition from the Mondo Disease Ontology (MONDO:0009417), read 2026-09-29. CC BY 4.0.
Features
13 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.
- CataractHPOHP:0000518
- Obligate (100% of cases)
- Hypergonadotropic hypogonadismHPOHP:0000815
- Obligate (100% of cases)
- Absence of secondary sex characteristicsHPOHP:0008187
- Very frequent (80% to 99% of cases)
- Decreased fertilityHPOHP:0000144
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Increased circulating gonadotropin levelHPOHP:0000837
- Very frequent (80% to 99% of cases)
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)
- Primary amenorrheaHPOHP:0000786
- Very frequent (80% to 99% of cases)
- Secondary growth hormone deficiencyHPOHP:0008240
- Very frequent (80% to 99% of cases)
- Recurrent fracturesHPOHP:0002757
- Frequent (30% to 79% of cases)
- Reduced bone mineral densityHPOHP:0004349
- Frequent (30% to 79% of cases)
Show the remaining 1
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: hypergonadotropic hypogonadism-cataract syndrome
- Also called
- Lubinsky syndrome