Persistent Müllerian Duct Syndrome

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Xu, R. Persistent Müllerian Duct Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5304 (accessed on 21 September 2026).

Xu R. Persistent Müllerian Duct Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5304. Accessed September 21, 2026.

Xu, Rita. "Persistent Müllerian Duct Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5304 (accessed September 21, 2026).

Xu, R. (2020, December 24). Persistent Müllerian Duct Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5304

Xu, Rita. "Persistent Müllerian Duct Syndrome." Encyclopedia. Web. 24 December, 2020.

Persistent Müllerian Duct Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/persistent-mullerian-duct-syndrome

Persistent Müllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Müllerian duct during development of the fetus. The Müllerian duct usually breaks down during early development in males, but it is retained in those with persistent Müllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia.

genetic conditions

References

Belville C, Van Vlijmen H, Ehrenfels C, Pepinsky B, Rezaie AR, Picard JY,Josso N, di Clemente N, Cate RL. Mutations of the anti-mullerian hormone gene in patients with persistent mullerian duct syndrome: biosynthesis, secretion, andprocessing of the abnormal proteins and analysis using a three-dimensional model.Mol Endocrinol. 2004 Mar;18(3):708-21.
Faure E, Gouédard L, Imbeaud S, Cate R, Picard JY, Josso N, di Clemente N.Mutant isoforms of the anti-Müllerian hormone type II receptor are not expressed at the cell membrane. J Biol Chem. 1996 Nov 29;271(48):30571-5.
Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N,Picard JY. A 27 base-pair deletion of the anti-müllerian type II receptor gene isthe most common cause of the persistent müllerian duct syndrome. Hum Mol Genet.1996 Sep;5(9):1269-77.
Josso N, Belville C, di Clemente N, Picard JY. AMH and AMH receptor defects inpersistent Müllerian duct syndrome. Hum Reprod Update. 2005 Jul-Aug;11(4):351-6.
Josso N, Picard JY, Imbeaud S, di Clemente N, Rey R. Clinical aspects andmolecular genetics of the persistent müllerian duct syndrome. Clin Endocrinol(Oxf). 1997 Aug;47(2):137-44. Review.
Rey R. Anti-Müllerian hormone in disorders of sex determination anddifferentiation. Arq Bras Endocrinol Metabol. 2005 Feb;49(1):26-36.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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