What are the other Names for this Condition? (Also known as/Synonyms)

• Diethylstilbestrol Embryofetopathy
• Distilbene Embryofetopathy
• Fetal Diethylstilbestrol Syndrome

What is Diethylstilbestrol Syndrome? (Definition/Background Information)

• Diethylstilbestrol (DES) Syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy 
• DES, a synthetic nonsteroidal estrogen, was widely prescribed from 1940-1970 to prevent miscarriage
• The disorder 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 

(Source: Diethylstilbestrol Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Diethylstilbestrol Syndrome? (Age and Sex Distribution)

• Diethylstilbestrol Syndromeis a rare congenital disorder. The presentation of symptoms may occur at any age
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Diethylstilbestrol Syndrome? (Predisposing Factors)

• Being a child or grandchild of a woman who got exposed to diethylstilbestrol (or DES, a synthetic nonsteroidal estrogen) during pregnancy is the only risk factor for developing Diethylstilbestrol Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Diethylstilbestrol Syndrome? (Etiology)

Exposure to diethylstilbestrol during pregnancy causes Diethylstilbestrol Syndromein the children and grandchildren of the exposed (pregnant) woman.

What are the Signs and Symptoms of Diethylstilbestrol Syndrome?

The signs and symptoms of Diethylstilbestrol Syndromemay include the following:

Very frequently present symptoms in 80-99% of the cases:

• In both males and females, the following may be noted:
  • Small for gestational age
  • Premature birth
• In males, the following may be observed:
  • Epididymal cyst
  • Cryptorchidism
  • Micropenis
  • Testicular dysgenesis
• In females, the following may be observed:
  • Hypoplasia of the uterus
  • Premature ovarian insufficiency
  • Decreased fertility
  • Preeclampsia
  • Vaginal neoplasm
  • Breast carcinoma
• Frequently present symptoms in 30-79% of the cases: Hypospadias in males
• Occasionally present symptoms in 5-29% of the cases (in both males and females):
  • Central apnea 
  • Melanoma

(Source: Diethylstilbestrol Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Diethylstilbestrol Syndrome Diagnosed?

Diethylstilbestrol Syndromeis diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Diethylstilbestrol Syndrome?

The complications of Diethylstilbestrol Syndromemay include:

• Decreased fertility; infertility
• Development of cancers

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Diethylstilbestrol Syndrome Treated?

Presently, there is no cure for Diethylstilbestrol Syndrome. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Diethylstilbestrol Syndrome be Prevented?

• The use of DES is decreasing steeply and the incidence of Diethylstilbestrol Syndrome caused by DES-exposure is on the decline worldwide
• If one becomes aware of exposure in the womb, they should immediately contact their healthcare provider for relevant tests and treatments
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Diethylstilbestrol Syndrome? (Outcomes/Resolutions)

• The prognosis of Diethylstilbestrol Syndromeis dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Diethylstilbestrol Syndrome:

Diethylstilbestrol Syndrome is also known by the following names: 

• Antenatal Diethylstilbestrol Exposure
• DES Embryofetopathy
• DES Syndrome
• Diethylstilbestrol Embryofetopathy
• Distilbene Embryofetopathy
• Fetal Diethylstilbestrol Syndrome

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/