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Freemartinism

MedGen UID:
42099
•Concept ID:
C0016697
•
Disease or Syndrome

Definition

A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric ""female""(CHIMERISM). [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFreemartinism

Recent clinical studies

Etiology

Low prevalence of male microchimerism in women with Mayer-Rokitansky-Küster-Hauser syndrome.
Peters HE, Johnson BN, Ehli EA, Micha D, Verhoeven MO, Davies GE, Dekker JJML, Overbeek A, Berg MHVD, Dulmen-den Broeder EV, Leeuwen FEV, Mijatovic V, Boomsma DI, Lambalk CB
Hum Reprod 2019 Jun 4;34(6):1117-1125. doi: 10.1093/humrep/dez044. PMID: 31111890Free PMC Article
The possibility of early estimation for fertility in bovine heterosexual twin females.
Satoh S, Hirata T, Miyake Y, Kaneda Y
J Vet Med Sci 1997 Mar;59(3):221-2. doi: 10.1292/jvms.59.221. PMID: 9101484
Some early and surprising blood group findings.
Race RR, Sanger R
Vox Sang 1983;44(2):126-8. doi: 10.1111/j.1423-0410.1983.tb04115.x. PMID: 6338658
Analytic review: nature and origin of males with XX sex chromosomes.
de la Chapelle A
Am J Hum Genet 1972 Jan;24(1):71-105. PMID: 4622299Free PMC Article

Diagnosis

Low prevalence of male microchimerism in women with Mayer-Rokitansky-Küster-Hauser syndrome.
Peters HE, Johnson BN, Ehli EA, Micha D, Verhoeven MO, Davies GE, Dekker JJML, Overbeek A, Berg MHVD, Dulmen-den Broeder EV, Leeuwen FEV, Mijatovic V, Boomsma DI, Lambalk CB
Hum Reprod 2019 Jun 4;34(6):1117-1125. doi: 10.1093/humrep/dez044. PMID: 31111890Free PMC Article
Chimerism and tetragametic chimerism in humans: implications in autoimmunity, allorecognition and tolerance.
Yunis EJ, Zuniga J, Romero V, Yunis EJ
Immunol Res 2007;38(1-3):213-36. doi: 10.1007/s12026-007-0013-3. PMID: 17917028
The possibility of early estimation for fertility in bovine heterosexual twin females.
Satoh S, Hirata T, Miyake Y, Kaneda Y
J Vet Med Sci 1997 Mar;59(3):221-2. doi: 10.1292/jvms.59.221. PMID: 9101484

Therapy

Low prevalence of male microchimerism in women with Mayer-Rokitansky-Küster-Hauser syndrome.
Peters HE, Johnson BN, Ehli EA, Micha D, Verhoeven MO, Davies GE, Dekker JJML, Overbeek A, Berg MHVD, Dulmen-den Broeder EV, Leeuwen FEV, Mijatovic V, Boomsma DI, Lambalk CB
Hum Reprod 2019 Jun 4;34(6):1117-1125. doi: 10.1093/humrep/dez044. PMID: 31111890Free PMC Article
Chimerism and tolerance: from freemartin cattle and neonatal mice to humans.
Jankowski RA, Ildstad ST
Hum Immunol 1997 Feb;52(2):155-61. doi: 10.1016/S0198-8859(96)00290-X. PMID: 9077564
Congenital and genetic disease in domestic animals.
Mulvihill JJ
Science 1972 Apr 14;176(4031):132-7. doi: 10.1126/science.176.4031.132. PMID: 5014436

Prognosis

The possibility of early estimation for fertility in bovine heterosexual twin females.
Satoh S, Hirata T, Miyake Y, Kaneda Y
J Vet Med Sci 1997 Mar;59(3):221-2. doi: 10.1292/jvms.59.221. PMID: 9101484
Bone marrow transplantation therapy for metabolic disease: animal models as predictors of success and in utero approaches.
Haskins M
Bone Marrow Transplant 1996 Dec;18 Suppl 3:S25-7. PMID: 8971403
Development of the gubernaculum and processus vaginalis in freemartinism: further evidence in support of a specific fetal testis hormone governing male-specific gubernacular development.
van der Schoot P, Vigier B, Prepin J, Perchellet JP, Gittenberger-de Groot A
Anat Rec 1995 Feb;241(2):211-24. doi: 10.1002/ar.1092410208. PMID: 7710137

Clinical prediction guides

Low prevalence of male microchimerism in women with Mayer-Rokitansky-Küster-Hauser syndrome.
Peters HE, Johnson BN, Ehli EA, Micha D, Verhoeven MO, Davies GE, Dekker JJML, Overbeek A, Berg MHVD, Dulmen-den Broeder EV, Leeuwen FEV, Mijatovic V, Boomsma DI, Lambalk CB
Hum Reprod 2019 Jun 4;34(6):1117-1125. doi: 10.1093/humrep/dez044. PMID: 31111890Free PMC Article
The possibility of early estimation for fertility in bovine heterosexual twin females.
Satoh S, Hirata T, Miyake Y, Kaneda Y
J Vet Med Sci 1997 Mar;59(3):221-2. doi: 10.1292/jvms.59.221. PMID: 9101484
Bone marrow transplantation therapy for metabolic disease: animal models as predictors of success and in utero approaches.
Haskins M
Bone Marrow Transplant 1996 Dec;18 Suppl 3:S25-7. PMID: 8971403
Development of the gubernaculum and processus vaginalis in freemartinism: further evidence in support of a specific fetal testis hormone governing male-specific gubernacular development.
van der Schoot P, Vigier B, Prepin J, Perchellet JP, Gittenberger-de Groot A
Anat Rec 1995 Feb;241(2):211-24. doi: 10.1002/ar.1092410208. PMID: 7710137
The in vivo roles of müllerian-inhibiting substance.
Behringer RR
Curr Top Dev Biol 1994;29:171-87. doi: 10.1016/s0070-2153(08)60550-5. PMID: 7828438

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