Diethylstilbestrol Syndrome

Categories: Cancer diseases, Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Diethylstilbestrol Syndrome

MalaCards integrated aliases for Diethylstilbestrol Syndrome:

Name: Diethylstilbestrol Syndrome 20 58
Des Syndrome 20 58 70
Diethylstilbestrol Embryofetopathy 20 58
Distilbene Embryofetopathy 20 58
Des Embryofetopathy 20 58
Antenatal Diethylstilbestrol Exposure 20
Diethylstilbestrol Prenatal Exposure 20
Fetal Diethylstilbestrol Syndrome 20


Orphanet epidemiological data:

diethylstilbestrol syndrome
Inheritance: Not applicable; Age of onset: All ages;


Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Developmental anomalies during embryogenesis
Teratologic disorders

External Ids:

ICD10 via Orphanet 33 Q86.8
UMLS via Orphanet 71 C0853695
Orphanet 58 ORPHA1916
UMLS 70 C0853695

Summaries for Diethylstilbestrol Syndrome

GARD : 20 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. 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"). 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. 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. 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. Females exposed to DES in utero also are more likely to experience various pregnancy complications including ectopic pregnancy, miscarriage, and preterm birth. However, most have healthy babies. 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. 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. Males exposed to DES do not appear to have an increased risk of infertility. 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. 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. 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.

MalaCards based summary : Diethylstilbestrol Syndrome, also known as des syndrome, is related to clear cell adenocarcinoma. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include breast, uterus and cervix, and related phenotypes are cryptorchidism and premature ovarian insufficiency

Wikipedia : 73 Diethylstilbestrol (DES), also known as stilbestrol or stilboestrol, is a nonsteroidal estrogen... more...

Related Diseases for Diethylstilbestrol Syndrome

Diseases related to Diethylstilbestrol Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 clear cell adenocarcinoma 9.7

Symptoms & Phenotypes for Diethylstilbestrol Syndrome

Human phenotypes related to Diethylstilbestrol Syndrome:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
2 premature ovarian insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008209
3 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
4 breast carcinoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0003002
5 premature birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001622
6 small for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001518
7 hypoplasia of the uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000013
8 testicular dysgenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008715
9 vaginal neoplasm 58 31 hallmark (90%) Very frequent (99-80%) HP:0100650
10 preeclampsia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100602
11 decreased fertility in females 58 31 hallmark (90%) Very frequent (99-80%) HP:0000868
12 epididymal cyst 58 31 hallmark (90%) Very frequent (99-80%) HP:0030424
13 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
14 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
15 central apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002871
16 abnormal testis morphology 58 Very frequent (99-80%)
17 abnormality of the uterus 58 Very frequent (99-80%)
18 abnormal reproductive system morphology 58 Very frequent (99-80%)

Drugs & Therapeutics for Diethylstilbestrol Syndrome

Drugs for Diethylstilbestrol Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 4

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Collaborative Study to Assess the Effects of Treatment With Recombinant Growth Hormone Saizen® in the Prevention of Short Stature in Young Girls Suffering From Turner Syndrome Before the Age of 4 Years. Original French Title: Etude Collaborative Pour apprécier Les Effets du Traitement Par l'Hormone de Croissance Recombinante SAIZEN® Dans le Retard de Croissance de la Fillette Atteinte de Syndrome de Turner Avant l'âge de 4 Ans Completed NCT01066052 Phase 4 r-hGH
2 Thérapie Cellulaire au Cours Des Syndromes d'Insuffisance en Cellules Souches Limbiques Completed NCT01619189 Phase 2
3 Analyse en médecine d'Urgence d'Une stratégie d'Utilisation combinée de Deux Marqueurs Biologiques Dans le Diagnostic de Syndrome Coronaire Aigu Non ST+: étude Des Performances de la Heart-Fatty Acid Binding Protein et de l' Ischemia Modified Albumin dès la première Heure de Prise en Charge Completed NCT00714298
4 Application de l'oxymétrie Dynamique Pour le Diagnostic Des Syndromes de défilés Thoraco-brachiaux Systematic Transcutaneous Oxymetry Use in Thoracic Outlet Syndrom Recruiting NCT03355274
5 Evaluation Des Mesures Dopplers, Angiographiques, Radiographique Oximetriques, Plethysmographiques, Electromyographiques et Des Questionnaires Cliniques Des Patients adressés Pour Suspicion de Syndrome du défilé Thoraco-brachial Recruiting NCT04376177

Search NIH Clinical Center for Diethylstilbestrol Syndrome

Genetic Tests for Diethylstilbestrol Syndrome

Anatomical Context for Diethylstilbestrol Syndrome

MalaCards organs/tissues related to Diethylstilbestrol Syndrome:

Breast, Uterus, Cervix, Prostate, Testes, Testis

Publications for Diethylstilbestrol Syndrome

Articles related to Diethylstilbestrol Syndrome:

(show all 16)
# Title Authors PMID Year
Current perspective of diethylstilbestrol (DES) exposure in mothers and offspring. 20
28461243 2017
New frontiers of developmental endocrinology opened by researchers connecting irreversible effects of sex hormones on developing organs. 61
33189416 2021
17 alpha-hydroxyprogesterone caproate does not prolong pregnancy or reduce the rate of preterm birth in women at high risk for preterm delivery and a short cervix: a randomized controlled trial. 61
25448515 2015
Developmental effects: oestrogen-induced vaginal changes and organotin-induced adipogenesis. 61
18248399 2008
[DES syndrome]. 61
16817437 2006
Expression of estrogen-regulated genes during development in the mouse uterus exposed to diethylstilbestrol neonatally. 61
16611131 2006
Initial uterine alterations caused by developmental exposure to tamoxifen. 61
9407592 1997
Endometrial hyperplasia and apoptosis following neonatal diethylstilbestrol exposure and subsequent estrogen stimulation in both host and transplanted hamster uteri. 61
9157983 1997
Effect of neonatal exposure to DES in Fas and Bcl-2 expression in the adult mouse vagina and approach to the DES syndrome. 61
8946560 1996
Assessment of estrogen receptor distribution in human endometrium by direct immunofluorescence. 61
7534967 1995
[DES syndrome]. 61
7757704 1993
[Epidemiology of extrauterine pregnancy]. 61
3321371 1987
Long-term evaluation of the diethylstilbestrol (DES) syndrome in adult female rhesus monkeys (Macaca mulatta). 61
2980390 1987
The etiology of renal-cell carcinoma. 61
6320450 1983
The DES syndrome and clear cell adenocarcinoma in young women. 61
248302 1978
Squamous neoplasia of vagina related to DES syndrome. 61
1155501 1975

Variations for Diethylstilbestrol Syndrome

Expression for Diethylstilbestrol Syndrome

Search GEO for disease gene expression data for Diethylstilbestrol Syndrome.

Pathways for Diethylstilbestrol Syndrome

GO Terms for Diethylstilbestrol Syndrome

Sources for Diethylstilbestrol Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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