46 XX gonadal dysgenesis
Findings
No curated finding names 46 XX gonadal dysgenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.
Definition from the Mondo Disease Ontology (MONDO:0009299), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Gonadal dysgenesisHPOHP:0000133
- Obligate (100% of cases)
- Premature ovarian insufficiencyHPOHP:0008209
- Obligate (100% of cases)
- Abnormality of secondary sexual hairHPOHP:0009888
- Very frequent (80% to 99% of cases)
- Decreased fertilityHPOHP:0000144
- Very frequent (80% to 99% of cases)
- Decreased serum estradiolHPOHP:0008214
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- Increased circulating gonadotropin levelHPOHP:0000837
- Very frequent (80% to 99% of cases)
- Primary amenorrheaHPOHP:0000786
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the breastsHPOHP:0010311
- Frequent (30% to 79% of cases)
- Aplasia/hypoplasia of the uterusHPOHP:0008684
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- OsteopeniaHPOHP:0000938
- Frequent (30% to 79% of cases)
Reported absent (1)
- Ambiguous genitaliaHPOHP:0000062
Show the remaining 12
- Osteoporosis of vertebraeHPOHP:0005625
- Frequent (30% to 79% of cases)
- Reduced bone mineral densityHPOHP:0004349
- Frequent (30% to 79% of cases)
- Sparse pubic hairHPOHP:0002225
- Frequent (30% to 79% of cases)
- Streak ovaryHPOHP:0010464
- Frequent (30% to 79% of cases)
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Occasional (5% to 29% of cases)
- Hearing impairmentHPOHP:0000365
- Occasional (5% to 29% of cases)
Genes
9 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.
- BMP15HGNC:1068
- Supportive · Orphanet · Autosomal dominant · 2021
- BNC1HGNC:1081
- Supportive · Orphanet · Autosomal dominant · 2021
- FSHRHGNC:3969
- Supportive · Orphanet · Autosomal dominant · 2021
- MRPS22HGNC:14508
- Supportive · Orphanet · Autosomal dominant · 2021
- NR5A1HGNC:7983
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
9 names
Resolves to: 46 XX gonadal dysgenesis
- Also called
- 46,XX complete gonadal dysgenesis46,XX gonadal dysgenesis46,XX ovarian dysgenesis46,XX pure gonadal dysgenesisfollicular stimulating hormone-resistant ovariesFSH-ROhypergonadotropic ovarian dysgenesisXX female gonadal dysgenesisXX-GD