Persistent Müllerian duct syndrome

Persistent Müllerian duct syndrome
Other namesPersistent Müllerian derivatives
Persistent Müllerian duct syndrome has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics 

Persistent Müllerian duct syndrome (PMDS) is the presence of Müllerian duct derivatives (fallopian tubes, uterus, and/or the upper part of the vagina)[1] in what would be considered a genetically and otherwise physically normal male.[2] In humans, PMDS typically is due to an autosomal recessive[3] congenital disorder and is considered by some to be a form of pseudohermaphroditism due to the presence of Müllerian derivatives.[1][4] PMDS can also present in non-human animals.[5][6]

Typical features include undescended testes (cryptorchidism) and the presence of a small, underdeveloped uterus in an XY infant or adult. This condition is usually caused by deficiency of fetal anti-Müllerian hormone (AMH) effect due to mutations of the gene for AMH or the anti-Müllerian hormone receptor, but may also be as a result of insensitivity to AMH of the target organ.[1]

  1. ^ a b c Renu D, Rao BG, Ranganath K (February 2010). "Persistent mullerian duct syndrome". primary. The Indian Journal of Radiology & Imaging. 20 (1): 72–4. doi:10.4103/0971-3026.59761. PMC 2844757. PMID 20352001.
  2. ^ Carlson NR (2013). Physiology of behavior. review (11th ed.). Boston: Pearson. p. 328. ISBN 978-0205239399.
  3. ^ Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N, Picard JY (September 1996). "A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome". primary. Human Molecular Genetics. 5 (9): 1269–77. doi:10.1093/hmg/5.9.1269. PMID 8872466.
  4. ^ Colacurci N, Cardone A, De Franciscis P, Landolfi E, Venditto T, Sinisi AA (February 1997). "Laparoscopic hysterectomy in a case of male pseudohermaphroditism with persistent Müllerian duct derivatives". primary. Human Reproduction. 12 (2): 272–4. doi:10.1093/humrep/12.2.272. PMID 9070709.
  5. ^ Cinti, F; Sainato, D; Charlesworth, T (April 2021). "A case of persistent Mullerian duct syndrome in a dog". The Journal of Small Animal Practice. 62 (4): 311. doi:10.1111/jsap.13225. PMID 33034383. S2CID 222235106.
  6. ^ "Persistent Müllerian Duct Syndrome". College of Veterinary Medicine - University of Minnesota. 12 April 2016. Retrieved 19 May 2022.
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