Tosur 2015 (44. Tosur M, Geary CA, Matalon R, Radhakrishnan RS, Swischuk LE, Tarry WF, et al. Persistence of müllerian duct structures in a genetic male with distal monosomy 10q. Am J Med Genet A. 2015;167A:791–6.) |
United States |
A genetic male with PMDS and AMH deficiency associated with distal monosomy 10q. |
Modi 2015 (55. Modi J, Modi D, Bachani L. Acute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome. Indian J Pathol Microbiol. 2015;58:83–5.) |
India |
An adult male with bilateral cryptorchidism and a pelvic mass, who presented with acute urinary retention, and was diagnosed with a seminoma of the right testis, intratubular germ cell neoplasia of the left testis with the presence of Mullerian remnants. |
Yamada 2015 (66. Yamada K, Takahata A, Ichijo Y, Akazawa K, Goto M, Terayama K, et al. A case of testicular seminoma in persistent Mullerian duct syndrome with transverse testicular ectopia. Abdom Imaging. 2015;40:475–9.) |
Japan |
A 42-year-old man with testicular seminoma and transverse testicular ectopia. |
Kovachev 2014 (77. Kovachev SM, Nikolov SD, Mihova AP. Uterine leiomyoma in a man with persistente Müllerian duct syndrome and seminoma. Isr Med Assoc J. 2014;16:735–7.) |
Bulgaria |
A 46-year-old man with a history of cryptorchidism and orchidopexy and father of two children presenting with an intra-abdominal mass. |
Telli 2014 (88. Telli O, Gökçe MI, Haciyev P, Soygür T, Burgu B. Transverse testicular ectopia: a rare presentation with persistent Müllerian duct syndrome. J Clin Res Pediatr Endocrinol. 2014;6:180–2.) |
Turkey |
A patient with testicular ectopia. |
Morikawa 2014 (99. Morikawa S, Moriya K, Ishizu K, Tajima T. Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Müllerian duct syndrome. J Pediatr Endocrinol Metab. 2014;27:1223–6.) |
Japan |
A 1-year-old child presented with bilateral cryptorchidism and normal male external genitalia. A laparoscopic surgery revealed a uterus and fallopian tubes. |
Wei 2014 (1010. Wei CH, Wang NL, Ting WH, Du YC, Fu YW. Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes. J Pediatr Urol. 2014;10:929–33.) |
Taiwan |
Three patients with bilateral undescended testis and Mullerian duct remants. |
Alp 2014 (1111. Alp BF, Demirer Z, Gürağaç A, Babacan O, Sarı E, Sarı S, et al. Persistent Mullerian duct syndrome with transverse testicular ectopia and seminoma. Int Urol Nephrol. 2014;46:1557–62.) |
Turkey |
A 28-year-old male diagnosed with undescended left testis and infertility (azoospermia). |
Wu 2014 (1212. Wu JA, Hsieh MH. Robot-assisted laparoscopic hysterectomy, gonadal biopsy, and orchiopexies in an infant with persistent mullerian duct syndrome. Urology. 2014;83:915–7.) |
United States |
An infant born with hypospadias and no palpable gonads was diagnosed with PMDS based on history, physical examination, laboratory testing, and radiologic imaging. A robot-assisted laparoscopic hysterectomy, right gonadal biopsy, and bilateral orchidopexy were performed. |
Farag 2013 (1313. Farag S, Sutton P, Leow KS, Kosai NR, Razman J, Hanafiah H, et al. Persistent Mullerian Duct Syndrome: an interesting case report. Clin Ter. 2013;164:323–6.) |
United Kingdom |
A young male with a left sided inguinal hernia in which the sac contained both testes and uterus. |
Beatty 2013 (1414. Beatty JS, Bhalla VK, Hatley RM, Pipkin WL, Howell CG. Neglected cryptorchidism: delayed recognition of persistent müllerian duct syndrome and subsequent malignant degeneration. Urology. 2013;82:511–4.) |
United States |
A 50-year-old man with a history of hernia repair and vanished testes presenting with abdominal pain, who was diagnosed with an abdominal mass shown to be an uterus and ovary. |
Gupta 2013 (1515. Gupta A, Panda N, Saha ML, Ganguly S, Bandyopadhyay SK, Das R. Persistent Mullerian duct syndrome with transverse testicular ectopia: rare presentation of inguinal hernia. Urol J. 2013;10:909–11.) |
India |
A 23-year-old man presented with a left-sided reducible inguinal hernia and undescended testis in an empty ill-developed right hemiscrotum. Semen analysis revealed azoospermia and laparoscopy demonstrated a uterus, fallopian tube and a testis. |
Wongprasert 2013 (1616. Wongprasert H, Somanunt S, De Filippo R, Picard JY, Pitukcheewanont P. A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report. J Pediatr Urol. 2013;9:e147–9.) |
United States |
A 2-week-old newborn presented with bilateral cryptorchidism and normal male external genitalia. At age 1 year and 4 months, he underwent laparoscopic surgery, which revealed a uterus and fallopian tubes. A unique homozygous T to G base substitution was found at position 2219, near the middle of the exon 5, changing codon CTG to CGG in anti-Mullerian hormone (AMH) gene. Both parents are heterozygous for the mutation. |
Østergren 2013 (1717. Østergren P, Juul A, Azawi NH. Disorders of sex development presenting as unilateral cryptorchidism. Scand J Urol. 2013;47:433–6.) |
Denmark |
One patient with unilateral undescended testes and PMSD found during laparoscopy. |
Ju 2013 (1818. Ju X, Li Z, Zhang C, Qin C, Shao P, Li J, et al. Clinical aspects and molecular genetics of persistent müllerian duct syndrome associated with transverse testicular ectopia: report of three cases. Urol Int. 2013;90:83–6.) |
China |
Three cases of Chinese patients with PMDS associated with testicular ectopia, which were subjected to orchidopexy. |
Salehi 2012 (1919. Salehi P, Koh CJ, Pitukcheewanont P, Trinh L, Daniels M, Geffner M. Persistent Müllerian duct syndrome: 8 new cases in Southern California and a review of the literature. Pediatr Endocrinol Rev. 2012–2013;10:227–33.) |
United States |
Description of 8 cases diagnosed in California. |
Keukens 2012 (2020. Keukens L, Zijp G, Mul D. Persistent Mullerian duct syndrome: a rare cause of unilateral cryptorchidism. BMJ Case Rep. 2012;2012.) |
Netherlands |
A 12-year-old boy with cryptorchidism and PMSD diagnosed during laparoscopy. |
van der Zwan 2012 (2121. van der Zwan YG, Brüggenwirth HT, Drop SL, Wolffenbuttel KP, Madern GC, Looijenga LH, et al. A novel AMH missense mutation in a patient with persistent Müllerian duct syndrome. Sex Dev. 2012;6:279–83.) |
Netherlands |
A PMSD patient diagnosed with a novel homozygous missense mutation in the AMH gene (single nucleotide insertion (C) at position 208 Biopsy of both gonads revealed that germ cells were present in an irregular distribution, but the absence of OCT3/4, PLAP and c-KIT expression indicated physiological maturation. |
Bassani 2012 (2222. Bassani F, Silveri M, Grossi A, Orazi C, Adorisio O. Updating on the management of germ-cell tumors in disorders of sex development: intratubular germ-cell neoplasia, unclassified type in a 46, XY DSD patient with persistente Müllerian duct syndrome. Eur J Pediatr Surg. 2012;22:257–9.) |
Italy |
A patient with PMDS and ITGCNU. |
Farikullah 2012 (2323. Farikullah J, Ehtisham S, Nappo S, Patel L, Hennayake S. Persistent Müllerian duct syndrome: lessons learned from managing a series of eight patients over a 10-year period and review of literature regarding malignant risk from the Müllerian remnants. BJU Int. 2012;110:E1084–9.) |
United Kingdom |
Eleven cases with PMDS and malignancy of the Müllerian remnants were reported: five males presented with bilateral undescended testes and three had unilateral undescended testis. |
Chattopadhyay 2011 (2424. Chattopadhyay SD, Karmakar NC, Sengupta R, Sengupta TK, Biswas RS, Mukherjee R. A rare case of persistent muellerian duct syndrome presenting as inguinal hernia. J Indian Med Assoc. 2011;109:757–8.) |
India |
A phenotypically normal looking male presenting with irreducible left sided inguinal hernia, which on exploration revealed uterus, fallopian tubes and testis. |
Demir 2011 (2525. Demir O, Kizer O, Sen V, Esen AA. Persistent mullerian duct syndrome in adult men diagnosed using laparoscopy. Urology. 2011;78:566.) |
Turkey |
A 37-year-old man with history bilateral cryptorchidism, erectile dysfunction and infertility; diagnostic laparoscopy confirmed the presence of intra-abdominal testes and PMDS. |
Kaul 2011 (2626. Kaul A, Srivastava KN, Rehman SM, Goel V, Yadav V. Persistent Müllerian duct syndrome with transverse testicular ectopia presenting as an incarcerated inguinal hernia. Hernia. 2011;15:701–4.) |
United States |
An adult male who had a unique combination of both transverse testicular ectopia and PMDS presenting as an incarcerated inguinal hernia. |