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Features include always present findings: Premature ovarian insufficiency, Hypoplasia of the uterus, Delayed skeletal maturation, and Elevated circulating luteinizing hormone level and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lab test results | 2 | Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level |
SPIDR function has not been fully characterized.
Ovarian dysgenesis 9 is associated with mutations in the SPIDR gene on chromosome 8.
Genetic testing for SPIDR is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for ovarian dysgenesis 9 has been reported in the published literature.
Phenotype severity distribution: 10 always present features.
No clinical trials have been registered for ovarian dysgenesis 9.
70 publications have been identified in PubMed for ovarian dysgenesis 9. Research spans Basic Science / Preclinical (27%), Epidemiology / Natural History (23%), and Case Report / Case Series (14%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 19 | 27% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:04 AM UTC
Online Mendelian Inheritance in Man
Hormones |
2 |
Delayed puberty, Primary amenorrhea |
Bones and joints | 1 | Delayed skeletal maturation |
16 |
23% |
Patient case studies | 10 | 14% |
Clinical study results | 10 | 14% |
Research summaries | 9 | 13% |
Testing and diagnosis research | 3 | 4% |
New treatment approaches | 2 | 3% |
Other research | 1 | 1% |
Wolffenbuttel KP (2026). [PMID: 41632748](https://pubmed.ncbi.nlm.nih.gov/41632748/). *Sex Dev*. [Basic Science / Preclinical]
Jakubowska-Kowal K (2026). [PMID: 42077449](https://pubmed.ncbi.nlm.nih.gov/42077449/). *Front Endocrinol (Lausanne)*. [Epidemiology / Natural History]
Kondo E (2026). [PMID: 41724575](https://pubmed.ncbi.nlm.nih.gov/41724575/). *The journal of obstetrics and gynaecology research*. [Case Report / Case Series]
Zagorac A (2026). [PMID: 42017141](https://pubmed.ncbi.nlm.nih.gov/42017141/). *Front Genet*. [Case Report / Case Series]
Sage A (2026). [PMID: 41535243](https://pubmed.ncbi.nlm.nih.gov/41535243/). *Human reproduction (Oxford, England)*. [Diagnostic / Biomarker]
Dowlut-McElroy T (2026). [PMID: 41043543](https://pubmed.ncbi.nlm.nih.gov/41043543/). *Journal of pediatric and adolescent gynecology*. [Clinical Trial Publication]
Li LL (2026). [PMID: 41539956](https://pubmed.ncbi.nlm.nih.gov/41539956/). *Zhonghua Er Ke Za Zhi*. [Basic Science / Preclinical]
Bansal SP (2026). [PMID: 41478811](https://pubmed.ncbi.nlm.nih.gov/41478811/). *Int J Oral Maxillofac Surg*. [Review / Meta-Analysis]
Liang J (2026). [PMID: 41317609](https://pubmed.ncbi.nlm.nih.gov/41317609/). *European journal of obstetrics, gynecology, and reproductive biology*. [Case Report / Case Series]
Oktem O (2026). [PMID: 41719147](https://pubmed.ncbi.nlm.nih.gov/41719147/). *Hum Reprod*. [Basic Science / Preclinical]