National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Diethylstilbestrol syndrome


Other Names:
DES embryofetopathy; Diethylstilbestrol embryofetopathy; DES syndrome; DES embryofetopathy; Diethylstilbestrol embryofetopathy; DES syndrome; Fetal diethylstilbestrol syndrome; Distilbene embryofetopathy; Antenatal diethylstilbestrol exposure; Diethylstilbestrol prenatal exposure See More
Categories:
Diethylstilbestrol syndrome (DES syndrome) refers to developmental or health problems caused by exposure to DES before birth (in utero), such as reproductive tract differences, infertility, and an increased risk for certain cancers.[1][2] DES is a synthetic form of the female hormone estrogen that was prescribed to pregnant women between about 1940 and 1971 to prevent miscarriage and premature labor. DES also may have been prescribed to women to inhibit lactation, as hormone replacement therapy for menopause symptoms, and as a post-coital emergency contraceptive (“morning-after pill”).[3] It was first thought to be safe and effective, but studies later found that DES was not effective in preventing pregnancy complications, and caused health problems in some children of mothers exposed during pregnancy, as well as some of the women exposed during pregnancy or for other reasons.[1] It is important to note that not all people exposed to DES have health problems due to the exposure.

Females exposed to DES in utero may have reproductive tract differences affecting the uterus, fallopian tubes, cervix, and/or vagina.[1][4] Examples include incomplete development of the uterus or cervix, a differently-shaped uterus or cervix, and a transverse vaginal septum. These differences may increase the risk of infertility.[4] Females exposed to DES in utero also are more likely to experience various pregnancy complications including ectopic pregnancy, miscarriage, and preterm birth.[1][4] However, most have healthy babies.[5] Additionally, females exposed in utero are at increased risk to develop cancers such as vaginal or cervical clear cell adenocarcinoma, squamous cervical cancer, and breast cancer.[1][3][4]

Males exposed to DES in utero have not been studied as extensively as females, but may be at increased risk for epididymal cysts, undescended testes, and inflammation or infection of the testicles.[1][2][4] Males exposed to DES do not appear to have an increased risk of infertility.[1][3][4]

Of note, women exposed to DES after birth (those exposed while they were pregnant or those exposed for other reasons) have an increased risk of developing breast cancer.[3][4] The children of women exposed to DES in utero (grandchildren of mothers exposed during pregnancy) may also have an increased risk for cancer, as well as higher infertility rates.[3]

Treatment for health problems associated with DES exposure depends on each person's signs and symptoms. Women who took DES during pregnancy or for other reasons are encouraged to inform their doctors and children of the exposure, and children exposed in utero should inform their doctors so they can be monitored for possible health problems that may arise.[4]
Last updated: 12/13/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Breast carcinoma
Breast cancer
0003002
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Decreased fertility in females
Reduced fertility in females
0000868
Epididymal cyst 0030424
Hypoplasia of the uterus
Small uterus
Underdeveloped uterus
[ more ] 		0000013
Micropenis
Short penis
Small penis
[ more ] 		0000054
Preeclampsia 0100602
Premature birth
Premature delivery of affected infants
Preterm delivery
[ more ] 		0001622
Premature ovarian insufficiency
Early menopause
Premature menopause
Premature ovarian failure
[ more ] 		0008209
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ] 		0001518
Testicular dysgenesis 0008715
Vaginal neoplasm
Vaginal tumor
0100650
30%-79% of people have these symptoms
Hypospadias 0000047
5%-29% of people have these symptoms
Central apnea 0002871
Melanoma 0002861
Showing of 15 |
Last updated: 7/1/2020

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Diethylstilbestrol syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Diethylstilbestrol syndrome:
    The Registry for Research on Hormonal Transplacental Carcinogenesis
     

General Clinical Trials & Research

  • The DES Follow-up Study is being conducted since 1992 by the National Cancer Institute, in collaboration with research centers throughout the United States. This study investigates the long-term health consequences associated with exposure to diethylstilbestrol (DES).

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Social Networking Websites

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The American Cancer Society provides information on Diethylstilbestrol syndrome. Please click on the link to access this resource.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

In-Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Diethylstilbestrol (DES) and Cancer. National Cancer Institute. October 5, 2011; https://www.cancer.gov/about-cancer/causes-prevention/risk/hormones/des-fact-sheet#q1.
  2. Diethylstilbestrol syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916. Accessed 12/13/2018.
  3. Al Jishi T, Sergi C. Current perspective of diethylstilbestrol (DES) exposure in mothers and offspring. Reprod Toxicol. August, 2017; 71:71-77. https://www.ncbi.nlm.nih.gov/pubmed/28461243.
  4. Hatch E. Outcome and follow-up of diethylstilbestrol (DES) exposed individuals. UpToDate. Waltham, MA: UpToDate; October 12, 2017; https://www.uptodate.com/contents/outcome-and-follow-up-of-diethylstilbestrol-des-exposed-individuals.
  5. Diethylstilbestrol. American Academy of Family Physicians. January, 2018; https://familydoctor.org/diethylstilbestrol/.