hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Findings
No curated finding names hypogonadotropic hypogonadism-retinitis pigmentosa 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 hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.
Definition from the Mondo Disease Ontology (MONDO:0016386), read 2026-09-29. CC BY 4.0.
Features
20 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.
- Hypogonadotropic hypogonadismHPOHP:0000044
- Obligate (100% of cases)
- Pigmentary retinopathyHPOHP:0000580
- Obligate (100% of cases)
- Rod-cone dystrophyHPOHP:0000510
- Obligate (100% of cases)
- Absence of secondary sex characteristicsHPOHP:0008187
- Very frequent (80% to 99% of cases)
- Anterior hypopituitarismHPOHP:0000830
- Very frequent (80% to 99% of cases)
- Breast hypoplasiaHPOHP:0003187
- 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)
- Gonadotropin-releasing hormone deficiencyHPOHP:0003164
- Very frequent (80% to 99% of cases)
- Hypoplasia of the ovaryHPOHP:0008724
- Very frequent (80% to 99% of cases)
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)
Show the remaining 8
- Primary amenorrheaHPOHP:0000786
- Very frequent (80% to 99% of cases)
- Reduced circulating prolactin concentrationHPOHP:0008202
- Very frequent (80% to 99% of cases)
- Secondary growth hormone deficiencyHPOHP:0008240
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- ObesityHPOHP:0001513
- Frequent (30% to 79% of cases)
- Recurrent fracturesHPOHP:0002757
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- Also called
- Chang-Davidson-Carlson syndrome