Persistent Müllerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism

Autor: Tulay Guran, Serap Turan, Zehra Yavas Abali, Kıvılcım Karadeniz Cerit, Fuat Bugrul, Arzu Canmemis, Abdullah Bereket, Tarik Kirkgoz, J. Y. Picard, Halil Tugtepe

Publikováno v: Sexual Development. 13:264-270

Homozygous loss of function mutations in genes encoding anti-Müllerian hormone (AMH) or its receptor (AMHRII) lead to persistent Müllerian duct syndrome (PMDS). PMDS is characterized by the presence of a uterus, fallopian tubes, cervix, and upper v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b8535581dbfc70b28b9a2fe9ec7b1e3
https://doi.org/10.1159/000510466

The persistent Müllerian duct syndrome : an update based upon a personal experience of 157 cases

Autor: Nathalie Josso, Richard L. Cate, Chrystèle Racine, J. Y. Picard

Publikováno v: Reproduction, Fertility and Development
Reproduction, Fertility and Development, CSIRO Publishing, 2019, 31 (7), pp.1240-1245. ⟨10.1071/RD17501⟩

Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHRII lead to the persistent müllerian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d244f3142b97c1c40fb2c984dfeba54d
https://hal.sorbonne-universite.fr/hal-02472552

Early Expression of the Androgen Receptor in the Sertoli Cells of a Marsupial Coincides with Downregulation of Anti-Müllerian Hormone at the Time of Urogenital Virilization

Autor: G.E. Wijayanti, Marilyn B. Renfree, N di Clemente, J. Y. Picard, Andrew J Pask, Chrystèle Racine, Nathalie Josso, Geoff Shaw

Publikováno v: Sexual Development. 3:317-325

Anti-Müllerian hormone (AMH), responsible for the regression of Müllerian ducts, is strongly expressed by eutherian fetal and postnatal Sertoli cells. Both AMH and testosterone levels are high during the period of fetal reproductive tract virilizat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af41349fb0588af851f94945fbc625c2
https://doi.org/10.1159/000273263

A visual pitfall: Persistent Mullerian duct syndrome (PMDS)

Autor: B. J. Otten, F. J. J. Halbertsma, J. Y. Picard, Karen A. Marcus

Publikováno v: Acta Paediatrica. 97:129-132

Persistent Mullerian Duct Syndrome (PMDS) is a rare disorder of the anti-mullerian hormone (AMH) synthesis or receptor, which due to the visual contrast of normal masculine external genitalia and female internal genitalia can raise confusion, sometim

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cd1fd9f768b93379c5c151a8d72d0029
https://doi.org/10.1111/j.1651-2227.2007.00573.x

Testicular degeneration in three patients with the persistent müllerian duct syndrome

Autor: S, Imbeaud, R, Rey, P, Berta, J L, Chaussain, J M, Wit, R H, Lustig, M A, De Vroede, J Y, Picard, N, Josso

Publikováno v: European Journal of Pediatrics. 154:187-190

The presistent Mullerian duct syndrome, characterized by the presence of uterus and tubes in males, is a familial disorder due to defects of synthesis or action of anti-Mullerian hormone, a Sertoli cell glycoprotein responsible for the regression of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5452618944e7dbe30b859a11066512e
https://doi.org/10.1007/bf01954268