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diethylstilbestrol syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

diethylstilbestrol syndrome

MONDO:0016012

Also known as:DES embryofetopathyDES syndromeDistilbene embryofetopathy

Overview

Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.

ResearchLimited published research (4 articles)

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for diethylstilbestrol syndrome.

5 publications have been identified in PubMed for diethylstilbestrol syndrome. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Liu R (2026). [PMID: 41758478](https://pubmed.ncbi.nlm.nih.gov/41758478/). *Discov Oncol*. [Case Report / Case Series]
Ramaswamy S (2026). [PMID: 42189946](https://pubmed.ncbi.nlm.nih.gov/42189946/). *Reprod Fertil*. [Basic Science / Preclinical]
Pathare R (2025). [PMID: 40416108](https://pubmed.ncbi.nlm.nih.gov/40416108/). *Cureus*. [Case Report / Case Series]
Rogers RE (2024). [PMID: 39730480](https://pubmed.ncbi.nlm.nih.gov/39730480/). *Sci Rep*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1916

GARD

Genetic and Rare Diseases Info Center

GARD:1859

Questions for Your Care Team

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diethylstilbestrol syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team