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Features include always present findings: Sex reversal and Gonadal dysgenesis; and common findings: Ambiguous genitalia and Fused labia minora. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 1 | Autistic behavior |
ZFPM2 function has not been fully characterized.
46,XY sex reversal 9 is associated with mutations in the ZFPM2 gene on chromosome 8.
Genetic testing for ZFPM2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 2 common features.
No clinical trials have been registered for 46,XY sex reversal 9.
20 publications have been identified in PubMed for 46,XY sex reversal 9. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 8 | 40% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:59 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about 46,XY sex reversal 9
4 |
20% |
Disease patterns and progression | 4 | 20% |
Research summaries | 3 | 15% |
Other research | 1 | 5% |
Zhang A (2026). [PMID: 41726041](https://pubmed.ncbi.nlm.nih.gov/41726041/). *Blood Sci*. [Case Report / Case Series]
Pachapure SS (2026). [PMID: 41847829](https://pubmed.ncbi.nlm.nih.gov/41847829/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Singh S (2026). [PMID: 31194363](https://pubmed.ncbi.nlm.nih.gov/31194363/). *Unknown Journal*. [Review / Meta-Analysis]
Rastari M (2025). [PMID: 39829003](https://pubmed.ncbi.nlm.nih.gov/39829003/). *J Pediatr Endocrinol Metab*. [Epidemiology / Natural History]
Marzuki NS (2025). [PMID: 40492130](https://pubmed.ncbi.nlm.nih.gov/40492130/). *J Clin Res Pediatr Endocrinol*. [Basic Science / Preclinical]
Turk Yilmaz RS (2025). [PMID: 39726663](https://pubmed.ncbi.nlm.nih.gov/39726663/). *JCEM Case Rep*. [Case Report / Case Series]
Kouri C (2025). [PMID: 40037090](https://pubmed.ncbi.nlm.nih.gov/40037090/). *EBioMedicine*. [Epidemiology / Natural History]
Suco Valle S (2025). [PMID: 39945494](https://pubmed.ncbi.nlm.nih.gov/39945494/). *J Clin Endocrinol Metab*. [Other]
Ding L (2025). [PMID: 40247401](https://pubmed.ncbi.nlm.nih.gov/40247401/). *Orphanet J Rare Dis*. [Basic Science / Preclinical]
Barka I (2025). [PMID: 40169148](https://pubmed.ncbi.nlm.nih.gov/40169148/). *Biol Reprod*. [Basic Science / Preclinical]
AI-curated news mentioning 46,XY sex reversal 9
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.