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Features include always present findings: Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level, and Primary amenorrhea; and common findings: Short stature and Decreased serum estradiol. 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lab test results | 2 | Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level |
SOHLH1 function has not been fully characterized.
Ovarian dysgenesis 5 is associated with mutations in the SOHLH1 gene on chromosome 9.
Genetic testing for SOHLH1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for ovarian dysgenesis 5 has been reported in the published literature.
Phenotype severity distribution: 4 always present features, 2 common features.
No clinical trials have been registered for ovarian dysgenesis 5.
108 publications have been identified in PubMed for ovarian dysgenesis 5. Research spans Review / Meta-Analysis (27%), Epidemiology / Natural History (23%), and Case Report / Case Series (18%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 28 | 27% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 2:27 PM UTC
Online Mendelian Inheritance in Man
Growth and development | 1 | Short stature |
Bones and joints | 1 | Delayed skeletal maturation |
Hormones | 1 | Primary amenorrhea |
24 |
23% |
Patient case studies | 19 | 18% |
Laboratory research | 19 | 18% |
Testing and diagnosis research | 7 | 7% |
Clinical study results | 6 | 6% |
Ravindra S (2026). [PMID: 41340166](https://pubmed.ncbi.nlm.nih.gov/41340166/). *Clin Endocrinol (Oxf)*. [Review / Meta-Analysis]
Li P (2026). [PMID: 41680702](https://pubmed.ncbi.nlm.nih.gov/41680702/). *BMC Complement Med Ther*. [Review / Meta-Analysis]
Biegańska O (2026). [PMID: 42049361](https://pubmed.ncbi.nlm.nih.gov/42049361/). *Anticancer Res*. [Case Report / Case Series]
Zhang Q (2026). [PMID: 41918383](https://pubmed.ncbi.nlm.nih.gov/41918383/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Karatas E (2026). [PMID: 41569008](https://pubmed.ncbi.nlm.nih.gov/41569008/). *Int J Gynaecol Obstet*. [Clinical Trial Publication]
Dowlut-McElroy T (2026). [PMID: 41043543](https://pubmed.ncbi.nlm.nih.gov/41043543/). *J Pediatr Adolesc Gynecol*. [Basic Science / Preclinical]
Odunvbun WO (2026). [PMID: 42202883](https://pubmed.ncbi.nlm.nih.gov/42202883/). *Afr J Reprod Health*. [Review / Meta-Analysis]
Dixon AJ (2026). [PMID: 41869856](https://pubmed.ncbi.nlm.nih.gov/41869856/). *Am J Physiol Renal Physiol*. [Basic Science / Preclinical]
Wang A (2026). [PMID: 42081361](https://pubmed.ncbi.nlm.nih.gov/42081361/). *J Vis Exp*. [Case Report / Case Series]
Fabbri-Scallet H (2026). [PMID: 41688582](https://pubmed.ncbi.nlm.nih.gov/41688582/). *Sci Rep*. [Clinical Trial Publication]