Rare Gastroenterology News

Disease Profile

Diethylstilbestrol syndrome

Prevalence
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.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

DES embryofetopathy; Diethylstilbestrol embryofetopathy; DES syndrome;

Categories

Female Reproductive Diseases; Kidney and Urinary Diseases

Summary

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]

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 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

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

    Organizations Providing General Support

      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

          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. https://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/.