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 duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS based upon a review of the literature and upon 157 personal cases. Three clinical presentations exist: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia. Abnormalities of male excretory ducts are frequent. Testicular malignant degeneration occurs in 33% of adults with the disorder, while cancer of müllerian derivatives is less frequent. Fertility is rare but possible if at least one testis is scrotal and its excretory ducts are intact. Eighty families with 64 different mutations of the AMH gene have been identified, mostly in exons 1, 2, and 5. AMHRII gene mutations representing 58 different alleles have been discovered in 75 families. The most common mutation, a 27-bp deletion in the kinase domain, was found in 30 patients of mostly Northern European origin. In 12% of cases, no mutation of AMH or AMHRII has been detected, suggesting a disruption of other pathways involved in müllerian regression.

Journal Section:
Editor's choice
Keywords:
Infertility, Malignant degeneration, Mutation, AMH, AMHRII, Cryptorchidism
1.
Abduljabbar M, Taheini K, Picard JY, Cate RL, Josso N: Mutations of the AMH type II receptor in two extended families with persistent Müllerian duct syndrome: lack of phenotype/genotype correlation. Horm Res Paediatr 77:291-297 (2012).
2.
Aboutorabi R, Feizzadeh B, Rajabian R: Gynecomastia secondary to choriocarcinoma in a man with persistant Müllerian duct syndrome. Int J Endocrinol and Metab 3:140-142 (2005).
3.
Agrawal AS, Kataria R: Persistent Müllerian duct syndrome (PMDS): a rare anomaly the general surgeon must now about. Indian J Surg 77:217-221 (2015).
4.
Allard S, Adin P, Gouédard L, di Clemente N, Josso N, et al: Molecular mechanisms of hormone-mediated Müllerian duct regression: involvement of beta-catenin. Development 127:3349-3360 (2000).
5.
Arango NA, Lovell-Badge R, Behringer RR: Targeted mutagenesis of the endogenous mouse Mis gene promoter: in vivo definition of genetic pathways of vertebrate sexual development. Cell 99:409-419 (1999).
6.
Armendares S, Buentello L, Frenk S: Two male sibs with uterus and Fallopian tubes. A rare, probably inherited disorder. Clin Genet 4:291-296 (1973).
7.
Baarends WM, van Helmond MJL, Post M, van der Schoot PC, Hoogerbrugge JW, et al: A novel member of the transmembrane serine/threonine kinase receptor family is specifically expressed in the gonads and in mesenchymal cells adjacent to the Müllerian duct. Development 120:189-197 (1994).
8.
Barad AK, Bharath NM, Narayana V, Raja VO, Jambula PR: Persistent Mullerian duct syndrome with embryonal cell carcinoma along with ectopic cross fused kidney. J Clin Diagn Res 10:D07-D08 (2016).
9.
Bashamboo A, Ledig S, Wieacker P, Achermann J, McElreavey K: New technologies for the identification of novel genetic markers of disorders of sex development (DSD). Sex Dev 4:213-224 (2010).
10.
Behringer RR, Cate RL: Müllerian inhibiting substance function during mammalian reproductive development, in Dufau ML (ed): Cell and Molecular Biology of the Testis, pp. 1-6 (Ares-Serono Symposia Publications, Rome 1994).
11.
Bellini C, Bonioli E, Josso N, Belville C, Mazzella M, et al: Persistence of Mullerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome. Am J Med Genet 104:69-74 (2001).
12.
Belville C, Van Vlijmen H, Ehrenfels C, Pepinsky RB, Rezaie AR, et al: Mutations of the anti-Müllerian hormone gene in patients with persistent Müllerian duct syndrome : biosynthesis, secretion and processing of the abnormal proteins and analysis using a three-dimensional model. Mol Endocrinol 18:708-721 (2004).
13.
Belville C, Maréchal JD, Pennetier S, Carmillo P, Masgrau L, et al: Natural mutations of the anti-Müllerian hormone type II receptor found in persistent Müllerian duct syndrome affect ligand binding, signal transduction and cellular transport. Hum Mol Genet 18:3002-3013 (2009).
14.
Berkmen F: Persistent Mullerian duct syndrome with or without transverse testicular ectopia and testis tumours. Br J Urol 79:122-126 (1997).
15.
Bhatnagar KK: Uterus presenting in an inguinal hernia of a male subject. Br Med J 2:1236 (1962).
16.
Binns JH, Cross RM: Hernia uteri inguinalis in a male. Br J Surg 54:571-575 (1967).
17.
Bowen DK, Matulewicz RS, Gong EM: Preservation of müllerian structures with laparoscopic management of intra-abdominal testes in persistent müllerian duct syndrome. J Pediatr Urol 12:65-66 (2016).
18.
Brandli DW, Akbal C, Eugsster E, Hadad N, Havlik RJ, Kaefer M: Persistent Müllerian duct syndrome with bilateral abdominal testis: surgical approach and review of the literature. J Pediatr Urol 1:423-427 (2005).
19.
Bucci S, Liguori G, Buttazzi L, Bussani R, Trombetta C: Bilateral testicular carcinoma in patient with the persistent Müllerian duct syndrome. J Urol 167:1790 (2002).
20.
Carré-Eusèbe D, Imbeaud S, Harbison M, New MI, Josso N, Picard JY: Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family. Hum Genet 90:389-394 (1992).
21.
Cass DT, Hutson J: Association of Hirschsprung's disease and Müllerian inhibiting substance deficiency. J Pediatr Surg 27:1596-1599 (1992).
22.
Cate RL, Mattaliano RJ, Hession C, Tizard R, Farber NM, et al: Isolation of the bovine and human genes for Müllerian inhibiting substance and expression of the human gene in animal cells. Cell 45:685-698 (1986).
23.
Chaabane W, Jarboui L, Sahnoun A, Daoud E, Hadjsliman M, et al: Persistent Müllerian duct syndrome with torsion of a transverse testicular ectopia: first reported case. Urology 76:65-66 (2010).
24.
Chelly J, Concordet JP, Kaplan JC, Kahn A: Illegitimate transcription - transcription of any gene in any cell type. Proc Natl Acad Sci USA 86:2617-2621 (1989).
25.
Cohen-Haguenauer O, Picard JY, Mattei MG, Serero S, Nguyen VC, et al: Mapping of the gene for anti-Müllerian hormone to the short arm of human chromosome 19. Cytogenet Cell Genet 44:2-6 (1987).
26.
Dekker HM, de Jong IJ, Sanders J, Wolf RF: Persistent Müllerian duct syndrome. Radiographics 23:309-313 (2003).
27.
Di Cesare E, Di Bartolo De Vincentiis V, Maffey MV, Splendiani A, Masciocchi C: US and MRI in a case of persistent Müllerian duct syndrome. Pediatr Radiol 28:865-867 (1998).
28.
di Clemente N, Wilson CA, Faure E, Boussin L, Carmillo P, et al: Cloning, expression and alternative splicing of the receptor for anti- Müllerian hormone. Mol Endocrinol 8:1006-1020 (1994).
29.
di Clemente N, Jamin SP, Lugovskoy A, Carmillo P, Ehrenfels C, et al: Processing of anti-müllerian hormone regulates receptor activation by a mechanism distinct from TGF-β. Mol Endocrinol 24:2193-2206 (2010).
30.
Durlinger ALL, Kramer P, Karels B, de Jong FH, Uilenbrok JT, et al: Control of primordial follicle recruitment by anti-Müllerian hormone in the mouse ovary. Endocrinology 140:5789-5796 (1999).
31.
Eastham JA, McEvoy K, Sullivan R, Chandrasoma P: A case of simultaneous bilateral nonseminomatous testicular tumors in persistent müllerian duct syndrome. J Urol 148:407-408 (1992).
32.
Eggers S, Sadedin S, Van Den Bergen JA, Robevska G, Ohnesorg T, et al: Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biol 17:243 (2016).
33.
El-Gohary MA: Laparoscopic management of persistent müllerian duct syndrome. Pediatr Surg Int 19:533-536 (2003).
34.
Elias-Assad G, Elias M, Kanety H, Pressman A, Tenenbaum-Rakover Y: Persistent Mullerian duct syndrome caused by a novel mutation of an anti-MuIlerian hormone receptor gene: case presentation and literature review. Pediatr Endocrinol Rev 13:731-740 (2016).
35.
Farag TI: Familial persistent Müllerian duct syndrome in Kuwait and neighboring populations. Amer J Med Genet 47:432-434 (1993).
36.
Farikullah J, Ehtisham S, Nappo S, Patel L, Hennayake S: Persistent Mullerian 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 Mullerian remnants. BJU Int 110: E1084-E1089 (2012).
37.
Giri SK, Berney D, O'Driscoll J, Drumm J, Flood HD, Gupta RK: Choriocarcinoma with teratoma arising from an intra-abdominal testis in patient with persistent Mullerian duct syndrome. Lancet Oncol 5:451-452 (2004).
38.
Glenister TW: The development of the utricle and so-called ‘middle' or ‘median' lobe of the human prostate. J Anat 96:443-455 (1962).
39.
Goder V, Spiess M: Topogenesis of membrane proteins: determinants and dynamics. FEBS Lett 504:87-93 (2001).
40.
Golladay ES, Redman JF: Transverse testicular ectopia. Urology 19:181-186 (1982).
41.
Goto D, Aoki K, Otsuka K, Kuwada M, Yoshida K, et al: A case of persistent Mullerian duct syndrome diagnosed by laparoscopic examination for impalpable testis. Hinyokika Kiyo 58:507-509 (2012).
42.
Gricourt S, Treton D, Renard-Pennat R, Samuel LJ, Bitker MO, et al: Novel Anti-Mullerian Hormone (AMH) mutation revealed by haematospermia in a 60 year's old patient. Clin Endocrinol (Oxf) 74:404-405 (2010).
43.
Grinspon RP, Bedecarras P, Ballerini MG, Iniguez G, Rocha A, et al: Early onset of primary hypogonadism revealed by serum anti-Mullerian hormone determination during infancy and childhood in trisomy 21. Int J Androl 34: e487-e498 (2011).
44.
Guell-Gonzalez R, Paramio-Ruibal A, Delgado-Morales B: Male pseudohermaphroditism with internal bisexual genitals. A report of two brothers. Rev Roum Endocrinol 7:343-347 (1970).
45.
Hamby SE, Thomas NS, Cooper DN, Chuzhanova N: A meta-analysis of single base-pair substitutions in translational termination codons (‘nonstop' mutations) that cause human inherited disease. Hum Genomics 5:241-264 (2011).
46.
Hoshiya M, Christian BP, Cromie WJ, Kim H, Zhan Y, MacLaughlin DT, Donahoe PK: Persistent Müllerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene. Birth Defects Res A Clin Mol Teratol 67:868-874 (2003).
47.
Hutson JM, Davidson PM, Reece L, Baker ML, Zhou B: Failure of gubernacular development in the persistent Müllerian duct syndrome allows herniation of the testes. Pediatr Surg Int 9:544-546 (1994).
48.
Hutson JM, Grover SR, O'Connell M, Pennell SD: Malformation syndromes associated with disorders of sexual development. Nat Rev Endocrinol 10:476-487 (2014).
49.
Imbeaud S, Carré-Eusèbe D, Rey R, Belville C, Josso N, Picard JY: Molecular genetics of the persistent Müllerian duct syndrome: a study of 19 families. Hum Mol Genet 3:125-131 (1994).
50.
Imbeaud S, Rey R, Berta P, Chaussain JL, Wit JM, et al: Progressive testicular degeneration in the persistent Müllerian duct syndrome. Eur J Pediatr 154:187-190 (1995a).
51.
Imbeaud S, Faure E, Lamarre I, Mattei MG, di Clemente N, et al: Insensitivity to anti-Müllerian hormone due to a spontaneous mutation in the human anti-Müllerian hormone receptor. Nat Genet 11:382-388 (1995b).
52.
Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, et al: A 27 base-pair deletion of the anti-Müllerian type II receptor gene is the most common cause of the persistent Müllerian duct syndrome. Hum Mol Genet 5:1269-1279 (1996).
53.
Inuganti RV, Bala GS, Kumar YK, Bharathi YK: Persistent Mullerian duct syndrome with testicular seminoma: a report of two cases. Indian J Urol 27:407-409 (2011).
54.
Jaka RC, Shankar M: Hernia uterine inguinale with transverse testicular ectopia and mixed germ cell tumor. Indian J Urol 23:75-76 (2007).
55.
Jinda W, Poungvarin N, Taylor TD, Suzuki Y, Thongnoppakhun W, et al: A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa. Mol Vis 22:342-351 (2016).
56.
Jordan M: Ein Fall von einseitigem Descensus testiculorum. Beitr Klin Chirurg 15:245 (1895).
57.
Josso N: In vitro synthesis of müllerian-inhibiting hormone by seminiferous tubules isolated from the calf fetal testis. Endocrinology 93:829-834 (1973).
58.
Josso N, Cate RL, Picard JY: The persistent müllerian duct syndrome, in New MI, Parsa A, Yuen TT, O'Malley B, Hammer GD (eds): Genetic Steroid Disorders, pp 265-278 (Elsevier, New York 2013).
59.
Jost A: Problems of fetal endocrinology: the gonadal and hypophyseal hormones. Rec Progr Horm Res 8:379-418 (1953).
60.
Kaore A, Kaore B: Persistent Müllerian duct syndrome. Nat J Integr Res Med 3:153-154 (2012).
61.
Karimi-Nejad MH, Rowshan H, Bahadori M, Karimi-Nejad R: Persistent Müllerian derivatives. Report of a fertile male with uterine hernia syndrome with two affected sibs. Clin Genet 34:400 (1988).
62.
Kato H, Komiyama I, Maejima T, Nishizawa O: Histopathological study of the Müllerian duct remnant: clarification of disease categories and terminology. J Urol 167:133-136 (2002)
63.
Kevenaar ME, Themmen APN, Laven JSE, Sonntag B, Lie Fong S, et al: Anti-Müllerian hormone and anti-Müllerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women. Hum Reprod 22:1547-1554 (2007a).
64.
Kevenaar ME, Themmen APN, Rivadeneira F, Uitterlinden AG, Laven JSE, et al: A polymorphism in the AMH type II receptor gene is associated with age at menopause in interaction with parity. Hum Reprod 22:2382-2388 (2007b).
65.
Klosowski S, Abriak A, Morisot C, Bayart HC, Belville C, et al: Atrésie jéjunale et syndrome de persistance des canaux de mülleriens. Arch Pediatr 4:1264-1265 (1997).
66.
Knebelmann B, Guerrier D, Legeai L, Kahn A, Josso N, Picard JY: A nonsense mutation in the last exon of the anti-Müllerian hormone gene is responsible for the persistent Müllerian duct syndrome in three brothers. Horm Res 33:11-12 (1990).
67.
Kobayashi A, Stewart CA, Wang Y, Fujioka K, Thomas NC, et al: beta-Catenin is essential for Mullerian duct regression during male sexual differentiation. Development 138:1967-1975 (2011).
68.
Korkmaz O, Ozen S, Ozcan N, Bayindir P, Sen S, et al: Persistent Müllerian duct syndrome with transverse testicular ectopia: a novel AMH receptor mutation. J Clin Res Pediatr Endocrinol (2017). doi: 10.4274/jcrpe.4058 [Epub ahead of print].
69.
Kovachev SM, Nikolov SD, Mihova AP: Uterine leiomyoma in a man with persistent Mullerian duct syndrome and seminoma. Isr Med Assoc J 16:735-737 (2014).
70.
Kozak M: Pushing the limits of the scanning mechanism for initiation of translation. Gene 299:1-34 (2002).
71.
Kumar S, Mohan A: Persistent Mullerian duct syndrome with transverse testicular ectopia. J Surg Case Rep 2012:9 (2012).
72.
Lasala C, Schteingart HF, Arouche N, Bedecarras P, Grinspon RP, et al: SOX9 and SF1 are involved in cyclic AMP-mediated upregulation of anti-Mullerian gene expression in the testicular prepubertal Sertoli cells SMAT1. Am J Physiol Endocrinol Metab 301:E539-E547 (2011).
73.
Liang YY, Zheng FF, Dai YP, Zheng KL, Zhou JX: Persistent Muellerian duct syndrome with transverse testicular ectopia. Asian J Androl 8:745-747 (2006).
74.
Lindgren G: Pubertal changes 1980 of Stockholm schoolchildren. Acta Paediatr 85:1365-1367 (1996).
75.
Loeff DS, Imbeaud S, Reyes HM, Meller JL, Rosenthal IM: Surgical and genetic aspects of persistent Müllerian duct syndrome. J Pediatr Surg 29:61-65 (1994).
76.
Manassero F, Cuttano MG, Morelli G, Salinitri G, Spurio M, Selli C: Mixed germ cell tumor after bilateral orchidopexy in persistent Mullerian duct syndrome with transverse testicular ectopia. Urol Int 73:81-83 (2004).
77.
Manjunath BG, Shenoy VG, Raj P: Persistent mullerian duct syndrome: how to deal with the mullerian duct remnants - a review. Indian J Surg 72:16-19 (2010).
78.
Matzuk MM, Finegold MJ, Mishina Y, Bradley A, Behringer RR: Synergistic effects of inhibins and Mullerian-inhibiting substance on testicular tumorigenesis. Mol Endocrinol 9:1337-1345 (1995).
79.
Mazen I, Abdel Hamid MS, El-Gammal M, Aref A, Amr K: AMH gene mutations in two Egyptian families with persistent müllerian duct syndrome. Sex Dev 11:29-33 (2011).
80.
Mazen I, Elgammal M, McElreavey K, Abdelhamed M, Elaydi A: Novel AMH and AMHRII mutations in two Egyptian families with persistent Müllerian duct syndrome (abstr.). 55th Annual Meeting of the European Society of Paediatric Endocrinology (ESPE). Horm Res Paediatr 82:255 (2016).
81.
Melman A, Leiter E, Perez JM, Driscoll D, Palmer C: The influence of neonatal orchiopexy upon the testis in persistent Mullerian duct syndrome. J Urol 125:856-858 (1981).
82.
Menabò S, Balsamo A, Nicoletti A, Gennari M, Pirazzoli P, et al: Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage. Horm Res 70:124-128 (2008).
83.
Mentrup B, Marschall C, Barvencik F, Amling M, Plendl H, et al: Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene. Bone 48:1401-1408 (2011).
84.
Merkel JS, Regan L: Aromatic rescue of glycine in beta sheets. Fold Des 3:449-455 (1998).
85.
Messika-Zeitoun L, Gouédard L, Belville C, Dutertre M, Lins L, et al: Autosomal recessive segregation of a truncating mutation of anti-Müllerian hormone type II receptor in a family affected by the persistent Müllerian duct syndrome contrasts with its dominant negative activity in vitro. J Clin Endocrinol Metab 86:4390-4397 (2001).
86.
Meyers-Wallen VN, Donahoe PK, Ueno S, Manganaro TF, Patterson DF: Müllerian inhibiting substance is present in testes of dogs with persistent mullerian duct syndrome. Biol Reprod 41:881-888 (1989).
87.
Mi LZ, Brown CT, Gao Y, Tian Y, Le VQ, et al: Structure of bone morphogenetic protein 9 procomplex. Proc Natl Acad Sci USA 112:3710-3715 (2015).
88.
Miller A, Hong MK, Hutson JM: The broad ligament: a review of its anatomy and development in different species and hormonal environments. Clin Anat 17:244-251 (2004).
89.
Mishina Y, Whitworth DJ, Racine C, Behringer RR: High specificity of Müllerian-inhibiting substance signaling in vivo. Endocrinology 140:2084-2088 (1999).
90.
Modi J, Modi D, Bachani L: Acute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome. Indian J Pathol Microbiol 58:83-85 (2015).
91.
Mohapatra M, Subramanya YS: Persistent Müllerian duct syndrome of mixed anatomical variant (combined male and female type) with mixed germ cell tumor of left intra-abdominal testis. Indian J Pathol Microbiol 59:212-215 (2016).
92.
Mollaeian M, Mehrabi V, Elahi B: Significance of epididymal and ductal anomalies associated with undescended testis: study in 652 cases. Urology 43:857-860 (1994).
93.
Morikawa S, Moriya K, Ishizu K, Tajima T: Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Mullerian duct syndrome. J Pediatr Endocrinol Metab 27:1223-1226 (2014).
94.
Morillo-Cucci G, German J: Males with a uterus and fallopian tubes, a rare disorder of sexual development. Birth Defects Orig Artic Ser 7:229-231 (1971).
95.
Mouli D, McCarthy P, Ray P, Ray V, Rosenthal IM: Persistent Müllerian duct syndrome in a man with transverse testicular ectopia. J Urol 139:373-375 (1988).
96.
Mullen RD, Behringer RR: Molecular genetics of Mullerian duct formation, regression and differentiation. Sex Dev 8:281-296 (2014).
97.
Naguib KK, Teebi AS, Al Awadi SA, El Khalifa MY, Mahfouz ES: Familial uterine hernia syndrome: report of an Arab family with four affected males. Am J Hum Genet 33:180-181 (1989).
98.
Nalbantoglu O, Demir K, Korkmaz HA, Buyukinan M, Yildiz M, et al: A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome. J Pediatr Endocrinol Metab 28:1379-1382 (2015).
99.
Nelson SM, Pastuszek E, Kloss G, Malinowska I, Liss J, et al: Two new automated, compared with two enzyme-linked immunosorbent, antimullerian hormone assays. Fertil Steril 104:1016-1021 (2015).
100.
Nickel RF, Ubbink G, van der Gaag, I, van Sluijs FJ: Persistent mullerian duct syndrome in the basset hound. Tijdschr Diergeneeskd 117 Suppl 1:31S (1992).
101.
Nilson O: Hernia uteri inguinalis beim Manne. Acta Chir Scand 83:231 (1939).
102.
Nishi MY, Domenice S, Maciel-Guerra AT, Zaba NA, Silva MA, et al: Analysis of anti-Mullerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Mullerian duct syndrome. Arq Bras Endocrinol Metabol 56:473-478 (2012).
103.
Orvis GD, Jamin SP, Kwan KM, Mishina Y, Kaartinen VM, et al: Functional redundancy of TGF-beta family type receptors and receptor-smads in mediating anti-Mullerian hormone-induced Mullerian duct regression in the mouse. Biol Reprod 78:994-1001 (2008).
104.
Panasiewicz G, Zamojska A, Bieniek M, Gizejewski Z, Szafranska B: Persistent Mullerian duct syndrome (PMDS) in the Polish free-ranged bull populations of the European bison (Bison bonasus L.). Anim Reprod Sci 152:123-136 (2015).
105.
Parr BA, McMahon AP: Sexually dimorphic development of the mammalian reproductive tract requires Wnt-7a. Nature 395:707-710 (1998).
106.
Parrini C, Taddei N, Ramazzotti M, Degl'Innocenti D, Ramponi G, et al: Glycine residues appear to be evolutionarily conserved for their ability to inhibit aggregation. Structure 13:1143-1151 (2005).
107.
Pepinsky RB, Sinclair LK, Chow EP, Mattaliano RJ, Manganaro TF, et al: Proteolytic processing of Müllerian inhibiting substance produces a transforming growth factor-β-like fragment. J Biol Chem 263:18961-18965 (1988).
108.
Picard JY, Benarous R, Guerrier D, Josso N, Kahn A: Cloning and expression of cDNA for anti-Müllerian hormone. Proc Natl Acad Sci USA 83:5464-5468 (1986).
109.
Pierre A, Racine C, Rey RA, Fanchin R, Taieb J, et al: Most cleaved anti-Mullerian hormone binds its receptor in human follicular fluid but little is competent in serum. J Clin Endocrinol Metab 101:4618-4627 (2016).
110.
Prakash N, Khurana A, Narula B: Persistent Mullerian duct syndrome. Indian J Pathol Microbiol 52:546-548 (2009).
111.
Pujar S, Meyers-Wallen VN: A molecular diagnostic test for persistent Mullerian duct syndrome in miniature schnauzer dogs. Sex Dev 3:326-328 (2009).
112.
Romero FR, Fucs M, Castro MG, Garcia CR, Fernandes RC, Perez MD: Adenocarcinoma of persistent mullerian duct remnants: case report and differential diagnosis. Urology 66:194-195 (2005).
113.
Rosal-Gonçalves M, Almeida C, Barber J, Kay T, Limbert C, et al: Mutation of the MIF type II receptor in two brothers. J Pediatr Endocrinol Metab 23:315-317 (2010).
114.
Royer P, Pellerin D, Habib R, Vermeil G, Rodriguez-Soriano J: Le pseudohermaphrodisme masculin interne à organes génitaux externes masculins normaux. Ann Pediatr 37:143-149 (1961).
115.
Sargiannidou I, Kim GH, Kyriakoudi S, Eun BL, Kleopa KA: A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32. Neurogenetics 16:193-200 (2015).
116.
Scrivere E, Montali E, Forti G: Familial male internal pseudohermaphroditism; report on a case. Horm Res 7:280-287 (1976).
117.
Shamim M: Persistent Mullerian duct syndrome with transverse testicular ectopia presenting in an irreducible recurrent inguinal hernia. J Pak Med Assoc 57:421-423 (2007).
118.
Sharma S, Sen A: Complete testicular epididymal dissociation in the abdominal cryptorchid testis. J Pediatr Urol 9:1023-1027 (2013).
119.
Shen WH, Moore CC, Ikeda Y, Parker KL, Ingraham HA: Nuclear receptor steroidogenic factor 1 regulates the mullerian inhibiting substance gene: a link to the sex determination cascade. Cell 77:651-661 (1994).
120.
Sherwani AY, Shah AQ, Wani AM, Bashir AC, Bashir AK, et al: Hysterectomy in a male? A rare case report. Int J Surg Case Rep 5:1285-1287 (2014).
121.
Sichani MM, Heidarpour M, Dadkhah A, Rezvani M: Persistent mullerian duct syndrome with an irreducible inguinal hernia. Urol J 6:298-300 (2009).
122.
Sloan WR, Walsh PC: Familial persistent Müllerian duct syndrome. J Urol 115:459-461 (1976).
123.
Smith-Harrison LI, Patel MS, Smith RP, Schenkman NS: Persistent Mullerian duct structures presenting as hematuria in an adult: case report of robotic surgical removal and review of the literature. Urol Ann 7:544-546 (2015).
124.
Snow BW, Rowland RG, Seal GM, Williams SD: Testicular tumor in patient with persistent mullerian duct syndrome. Urology 26:495-497 (1985).
125.
Souto CA, Oliveira MD, Teloken C, Paskulin G, Hoffmann K: Persistence of Mullerian duct derivative syndrome in 2 male patients with bilateral cryptorchidism. J Urol 153:1637-1638 (1995).
126.
Tanwar PS, Commandeur AE, Zhang L, Taketo MM, Teixeira JM: The Mullerian inhibiting substance type 2 receptor suppresses tumorigenesis in testes with sustained beta-catenin signaling. Carcinogenesis 33:2351-2361 (2012).
127.
Taylor SS, Kornev AP: Protein kinases: evolution of dynamic regulatory proteins. Trends Biochem Sci 36:65-77 (2011).
128.
Thiel DD, Erhard MJ: Uterine adenosarcoma in a boy with persistent mullerian duct syndrome: first reported case. J Pediatr Surg 40:e29-e31 (2005).
129.
Vainio S, Heikkilä M, Kispert A, Chin N, McMahon AP: Female development in mammals is regulated by Wnt-4 signaling. Nature 397:405-409 (1999).
130.
Valeri C, di Clemente N, Marshall I, Scheingart H, Josso N, et al: 46,XY DSD due to isolated AMH deficiency resulting in persistent Müllerian duct syndrome as a consequence of a single base deletion in a SF-1 Response Element of the AMH promoter (abstr.). 55th Annual Meeting of the European Society of Paediatric Endocrinology (ESPE). Horm Res Paediatr 82:521 (2016).
131.
Vandersteen DR, Chaumeton AK, Ireland K, Tank ES: Surgical management of persistent müllerian duct syndrome. Urology 49:941-945 (1997).
132.
van der Zwan YG, Bruggenwirth HT, Drop SL, Wolffenbuttel KP, Madern GC, et al: A novel AMH missense mutation in a patient with persistent mullerian duct syndrome. Sex Dev 6:279-283 (2012).
133.
van Haelst MM, Hoogeboom J, Galjaard RJH, Kleijer WJ, den Hollander NS, et al: Lymphangiectasia with persistent Müllerian derivatives: confirmation of autosomal recessive Urioste syndrome. Amer J Med Genet 104:65-68 (2001).
134.
van Maldergem L, Bachy A, Feldman D, Bouillon R, Maassen J, et al: A syndrome exhibiting lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents. Amer J Med Genet 64:506-513 (1996).
135.
Watanabe K, Clarke TR, Lane AH, Wang XZ, Donahoe PK: Endogenous expression of Müllerian inhibiting substance in early postnatal rat Sertoli cells requires multiple steroidogenic factor-1 and GATA-4-binding sites. Proc Natl Acad Sci USA 97:1624-1629 (2000).
136.
Webster J: A rare case of hermaphroditism. Surg Gynecol Obstet 3:484 (1906).
137.
Williams JC, Merguerian PA, Schned AR, Amdur RJ: Bilateral testicular carcinoma in situ in persistent mullerian duct syndrome: a case report and literature review. Urology 44:595-598 (1994).
138.
Wu XF, Wan SQ, Pujar S, Haskins ME, Schlafer DH, et al: A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent mullerian duct syndrome. J Androl 30:46-56 (2009).
139.
Yang J, Wu J, Steichen JM, Kornev AP, Deal MS, et al: A conserved Glu-Arg salt bridge connects coevolved motifs that define the eukaryotic protein kinase fold. J Mol Biol 415:666-679 (2012).
140.
Zeller J, Imbeaud S, Rey R, Adamsbaum C, Fourmaintraux A, et al: Le syndrome de persistance des dérivés mülleriens (hommes à utérus): un problème pédiatrique. Arch Pediatr 1:991-997 (1994).
141.
Zhapa E, Castagnetti M, Alaggio R, Talenti E, Rigamonti W: Testicular fusion in a patient with transverse testicular ectopia and persistent mullerian duct syndrome. Urology 76:62-64 (2010).
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