U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Fetal diethylstilbestrol syndrome

MedGen UID:
799290
•Concept ID:
C0853695
•
Disease or Syndrome
Synonym: Diethylstilbestrol syndrome
SNOMED CT: Fetal diethylstilbestrol syndrome (716005004); Foetal diethylstilbestrol syndrome (716005004); Distilbene embryofetopathy (716005004); DES (diethylstilbestrol) syndrome (716005004)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0016012
Orphanet: ORPHA1916

Definition

Diethylstilbestrol (DES) syndrome is a set of signs reported in offspring (children and grandchildren) of women exposed to DES during pregnancy with manifestations of 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFetal diethylstilbestrol syndrome
Follow this link to review classifications for Fetal diethylstilbestrol syndrome in Orphanet.

Recent clinical studies

Etiology

Environmental factors in genitourinary development.
Yiee JH, Baskin LS
J Urol 2010 Jul;184(1):34-41. Epub 2010 May 15 doi: 10.1016/j.juro.2010.03.051. PMID: 20478588
Testicular dysgenesis syndrome and the estrogen hypothesis: a quantitative meta-analysis.
Martin OV, Shialis T, Lester JN, Scrimshaw MD, Boobis AR, Voulvoulis N
Environ Health Perspect 2008 Feb;116(2):149-57. doi: 10.1289/ehp.10545. PMID: 18288311Free PMC Article
Late insights into early origins of disease.
Grandjean P
Basic Clin Pharmacol Toxicol 2008 Feb;102(2):94-9. doi: 10.1111/j.1742-7843.2007.00167.x. PMID: 18226061Free PMC Article
Programming and reproductive functioning.
Davies MJ, Norman RJ
Trends Endocrinol Metab 2002 Nov;13(9):386-92. doi: 10.1016/s1043-2760(02)00691-4. PMID: 12367820
Squamous neoplasia of vagina related to DES syndrome.
Fetherston WC
Am J Obstet Gynecol 1975 May;122(2):176-81. doi: 10.1016/s0002-9378(16)33489-5. PMID: 1155501

Diagnosis

Associated malformations in patients with limb reduction deficiencies.
Stoll C, Alembik Y, Dott B, Roth MP
Eur J Med Genet 2010 Sep-Oct;53(5):286-90. Epub 2010 Jul 27 doi: 10.1016/j.ejmg.2010.07.012. PMID: 20670696
Perturbed nuclear receptor signaling by environmental obesogens as emerging factors in the obesity crisis.
Grün F, Blumberg B
Rev Endocr Metab Disord 2007 Jun;8(2):161-71. doi: 10.1007/s11154-007-9049-x. PMID: 17657605
Diagnostic procedures for the stilbestrol-adenosis-carcinoma syndrome.
Aldrich JO, Henderson BE, Townsend DE
N Engl J Med 1972 Nov 2;287(18):934. doi: 10.1056/nejm197211022871820. PMID: 5075558

Therapy

Prenatal endocrine influences on sexual orientation and on sexually differentiated childhood behavior.
Hines M
Front Neuroendocrinol 2011 Apr;32(2):170-82. Epub 2011 Feb 17 doi: 10.1016/j.yfrne.2011.02.006. PMID: 21333673Free PMC Article
Childhood influences on adult disease.
Geary M, Hindmarsh PC
Hosp Med 1998 Apr;59(4):298-303. PMID: 9722370
Stilboestrol and vaginal clear-cell adenocarcinoma syndrome.
Monaghan JM, Sirisena LA
Br Med J 1978 Jun 17;1(6127):1588-90. doi: 10.1136/bmj.1.6127.1588. PMID: 656822Free PMC Article
Panel discussion: hormones and fetal metabolism.
Clin Pharmacol Ther 1973 Jul-Aug;14(4):742-7. doi: 10.1002/cpt1973144part2742. PMID: 4740519
Diagnostic procedures for the stilbestrol-adenosis-carcinoma syndrome.
Aldrich JO, Henderson BE, Townsend DE
N Engl J Med 1972 Nov 2;287(18):934. doi: 10.1056/nejm197211022871820. PMID: 5075558

Prognosis

Prenatal endocrine influences on sexual orientation and on sexually differentiated childhood behavior.
Hines M
Front Neuroendocrinol 2011 Apr;32(2):170-82. Epub 2011 Feb 17 doi: 10.1016/j.yfrne.2011.02.006. PMID: 21333673Free PMC Article
Programming and reproductive functioning.
Davies MJ, Norman RJ
Trends Endocrinol Metab 2002 Nov;13(9):386-92. doi: 10.1016/s1043-2760(02)00691-4. PMID: 12367820
Female infertility--effect of perinatal xenoestrogen exposure on reproductive functions in animals and humans.
Götz F, Thieme S, Dörner G
Folia Histochem Cytobiol 2001;39 Suppl 2:40-3. PMID: 11820621
From malformations to molecular mechanisms in the male: three decades of research on endocrine disrupters.
McLachlan JA, Newbold RR, Burow ME, Li SF
APMIS 2001 Apr;109(4):263-72. doi: 10.1034/j.1600-0463.2001.d01-119.x. PMID: 11469497
Squamous neoplasia of vagina related to DES syndrome.
Fetherston WC
Am J Obstet Gynecol 1975 May;122(2):176-81. doi: 10.1016/s0002-9378(16)33489-5. PMID: 1155501

Clinical prediction guides

Testicular cancer in mice: interplay between stem cells and endocrine insults.
Kaushik A, Bhartiya D
Stem Cell Res Ther 2022 Jun 8;13(1):243. doi: 10.1186/s13287-022-02784-5. PMID: 35676718Free PMC Article
Prenatal endocrine influences on sexual orientation and on sexually differentiated childhood behavior.
Hines M
Front Neuroendocrinol 2011 Apr;32(2):170-82. Epub 2011 Feb 17 doi: 10.1016/j.yfrne.2011.02.006. PMID: 21333673Free PMC Article
Late insights into early origins of disease.
Grandjean P
Basic Clin Pharmacol Toxicol 2008 Feb;102(2):94-9. doi: 10.1111/j.1742-7843.2007.00167.x. PMID: 18226061Free PMC Article
From malformations to molecular mechanisms in the male: three decades of research on endocrine disrupters.
McLachlan JA, Newbold RR, Burow ME, Li SF
APMIS 2001 Apr;109(4):263-72. doi: 10.1034/j.1600-0463.2001.d01-119.x. PMID: 11469497
Squamous neoplasia of vagina related to DES syndrome.
Fetherston WC
Am J Obstet Gynecol 1975 May;122(2):176-81. doi: 10.1016/s0002-9378(16)33489-5. PMID: 1155501

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...