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Disease Profile
Diethylstilbestrol syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
DES embryofetopathy; Diethylstilbestrol embryofetopathy; DES syndrome;
Categories
Female Reproductive Diseases; Kidney and Urinary Diseases
Summary
Diethylstilbestrol
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]
Symptoms
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.
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 |
Vaginal tumor
|
0100650 |
30%-79% of people have these symptoms | ||
Hypospadias | 0000047 | |
5%-29% of people have these symptoms | ||
Central apnea | 0002871 | |
0002861 |
Organizations
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
- Visit the following Facebook groups related to Diethylstilbestrol syndrome:
DES Tragedy: DES exposed welcome!
DES: Society of Sons and Daughters (So Sad)
DES Coalition
Organizations Providing General Support
-
American Cancer Society
250 Williams Street NW
Atlanta, GA 30329
Toll-free: 1-800-227-2345
Website: https://www.cancer.org
Learn more
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.
References
- Diethylstilbestrol (DES) and Cancer. National Cancer Institute. October 5, 2011; https://www.cancer.gov/about-cancer/causes-prevention/risk/hormones/des-fact-sheet#q1.
- Diethylstilbestrol syndrome. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916. Accessed 12/13/2018.
- 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.
- 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.
- Diethylstilbestrol. American Academy of Family Physicians. January, 2018; https://familydoctor.org/diethylstilbestrol/.