Developmental abnormalities of the female reproductive tract: Pathogenesis and nosology

References

1. • Simpson JL
   Disorders of Sexual Differentiation. Etiology and Clinical Delineation. Academic Press, New York1976
   • Google Scholar
2. • Simpson JL
   Phenotypic-karyotypic correlations of gonadal determinants: Current status and relationship to molecular studies.
   in: Sperling K Vogel F Proceedings 7th World International Congress Human Genetics. Heidelberg, Berlin1987: 224
   • Google Scholar
3. • Jirasek JE
   Atlas of Human Prenatal Morphogenesis. Martinus-Nijhoff, Boston1983: 64-68
   • Google Scholar
4. • Wachtel SS
   H-Y Antigen and the Biology of Sex Determination. Grune & Stratton, New York1983: 76-80
   • Google Scholar
5. • Magenis RE
   • Tochen ML
   • Holahan KP
   • et al.
   Turner syndrome resulting from partial deletion of Y chromosome short arm. Localization of male determinants.
   J Pediatr. 1984; 105: 916
   • Google Scholar
6. • Rosenfeld RG
   • Luzatti L
   • Mintz RL
   • et al.
   Sexual and somatic determinants of the human Y chromosomes. Studies in a 46,XYp-phenotypic female.
   Am J Hum Genet. 1979; 31: 458
   • Google Scholar
7. • Vergnaud G
   • Page DC
   • Simmler MC
   • et al.
   A deletion map of the human Y based on DNA hybridization.
   Am J Hum Genet. 1986; 38: 109
   • Google Scholar
8. • Page DC
   • Mosher R
   • Simpson EM
   • et al.
   The sex-determining region of the human Y chromosome encodes a finger protein.
   Cell. 1987; 51: 1091
   • Google Scholar
9. • Gyllensten L
   Contributions to embryology of the urinary bladder. Development of definitive relationships between openings of the Wolffian ducts and the ureters.
   Acta Anat. 1949; 7: 305
   • Google Scholar
10. • Budzik GP
    • Powell SM
    • Kamagata S
    • et al.
    Müllerian inhibiting substance fractionation by dye affinity chromatography.
    Cell. 1983; 34: 307
    • Google Scholar
11. • Shima H
    • Donahoe PK
    • Budzik GP
    • et al.
    Production of monoclonal antibodies for affinity purification of bovine Müllerian inhibiting substance activity.
    Hybridoma. 1984; 3: 201
    • Google Scholar
12. • Picard JY
    • Josso N
    Purification of testicular anti-Müllerian hormone allowing direct visualization of the pure glycoprotein and determination of yield and purification factor.
    Mol Cell Endocrinol. 1984; 34: 23
    • Google Scholar
13. • Donahoe PK
    • Cate RL
    • MacLaughlin DT
    • et al.
    Müllerian inhibiting substance. Gene structure and mechanism of action of a fetal regressor.
    Recent Prog Hor Res. 1987; 43: 431
    • Google Scholar
14. • Hayashi M
    • Shima H
    • Trelstad R
    • et al.
    Immunochemical localization of Müllerian inhibiting substance in the rough endoplasmic reticulum and golgi apparatus in Sertoli cells of the neonatal calf testis using a monoclonal antibody.
    J Histochem Cytochem. 1984; 32: 649
    • Google Scholar
15. • Cohen-Hauenauer O
    • Picard JY
    • Mattei MG
    • et al.
    Mapping of the gene for anti-Müllerian hormone to the short arm of human chromosome 19.
    Cytogenet Cell Genet. 1987; 44: 2
    • Google Scholar
16. • Coughlin JP
    • Donahoe PK
    • Budzik GP
    • et al.
    Müllerian inhibiting substance blocks autophosphorylation of the EGF receptors by inhibiting tyrosine kinase.
    Mol Cell Endocrinol. 1987; 49: 75
    • Google Scholar
17. • Cate RL
    • Ninfa EG
    • Pratt DJ
    • et al.
    Development of Müllerian inhibiting substance as an anti-cancer drug.
    Cold Spring Harbor Symp Quant Biol. 1986; LI: 641
    • Google Scholar
18. • Donahoe PK
    • Swann DA
    • Hayashi A
    • et al.
    Müllerian duct regression in the embryo correlated with cytotoxic activity against human ovarian cancer.
    Science. 1979; 205: 913
    • Google Scholar
19. • Fuller AF
    • Krane IM
    • Budzik GP
    • et al.
    Müllerian inhibiting substance reduction of colony growth of human gynecologic cancers in a stem cell assay.
    Gynecol Oncol. 1985; 22: 135
    • Google Scholar
20. • Bulmer D
    The development of the human vagina.
    J Anat. 1957; 91: 490
    • Google Scholar
21. • Jeffs RD
    Exstrophy, epispadias, and cloacal and urogenital sinus abnormalities.
    Pediatr Clin North Amer. 1987; 34: 1233
    • Google Scholar
22. • Hording U
    • Legarth J
    Uterus didelphys with a unilateral imperforate hemivagina and ipsilateral renal agenesis.
    Acta Obstet Gynecol Scand. 1987; 66: 277
    • Google Scholar
23. • Berman L
    • Stringer DA
    • Stonge O
    • et al.
    Unilateral hematocolpos in uterine duplication associated with renal agenesis.
    Clin Radiol. 1987; 38: 545
    • Google Scholar
24. • Hauser GA
    • Schreiner WE
    Das Mayer-Rokitansky-Kuster syndrome.
    Schweiz Med Wochenschr. 1961; 91: 381
    • Google Scholar
25. • Papp Z
    • Gardo S
    • Herpay G
    • et al.
    Developmental anomalies of the Müllerian ducts.
    Schweiz Z Gynaekol Geburt. 1970; 1: 115
    • Google Scholar
26. • Sueiro MB
    • Piloto R
    Aderencia incompleta dos pe-quinos labios com caracter familiar.
    Gaz Med Port. 1963; 16: 513
    • Google Scholar
27. • Willman SP
    • Carr BR
    • Klein VR
    Familial fusion of the labia minora (abstract).
    Proc Greenwood Genet Center. 1988; 7: 140
    • Google Scholar
28. • Chryssikopoulos A
    • Grigoriou O
    The etiology in 77 primary amenorrhea patients.
    Int J Fertil. 1987; 32: 245
    • Google Scholar
29. • Mcllroy DM
    • Ward IV
    Three cases of imperforate hymen occurring in one family.
    Proc R Soc Med. 1930; 23: 633
    • Google Scholar

30. Simpson JL: Gynecologic disorders. The Genetic Basis of Common Disease. Edited by RA King, JI Rotter, AG Motulsky. Oxford, Oxford University Press, in press

    • Google Scholar
31. • McCusick VA
    • Weilbaecher RG
    • Gragg GW
    Recessive inheritance of a congenital malformation syndrome.
    JAMA. 1968; 204: 111
    • Google Scholar
32. • Kaufman RL
    • Hartmann AF
    • McAlister WH
    Family studies in congenital heart disease II: A syndrome of hydrometrocolpos, postaxial Polydactyly and congenital heart disease.
    Birth Defects. 1972; 8: 85
    • Google Scholar
33. • Edwards JA
    • Gale RP
    Camptobrachydactyly. A new autosomal dominant trait with two probable homozygotes.
    Am J Hum Genet. 1972; 24: 464
    • Google Scholar
34. • Johanson A
    • Blizzard R
    A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanant teeth and malabsorption.
    J Pediatr. 1971; 79: 982
    • Google Scholar
35. • Paniel BJ
    • Truc JB
    • Poiyout P
    One hundred and ten cases of longitudinal septa of the vagina.
    J Gyn Obs Biol Repro. 1985; 14: 1011
    • Google Scholar
36. • Winter JSD
    • Kohn G
    • Mcllman WJ
    • et al.
    A familial syndrome of renal, genital and middle ear anomalies.
    J Pediatr. 1968; 72: 88
    • Google Scholar
37. • Turner G
    A second family with renal, vaginal and middle ear anomalies.
    J Pediatr. 1970; 76: 641
    • Google Scholar
38. • King LA
    • Sanchez-Ramos L
    • Talledo OE
    • et al.
    Syndrome of genital, renal, and middle ear anomalies. A third family and report of a pregnancy.
    Obstet Gynecol. 1987; 69: 491
    • Google Scholar
39. • Mayer CAJ
    Über Verdoppelungen des Uterus und ihre Arten, nebst Bemerkungen über Hasenscharte und Wolfsrachen.
    J Chir Auger. 1829; 13: 525
    • Google Scholar
40. • von Rokitansky KF
    Über die sogenannten Verdoppelungen des Uterus.
    Med Jb Ost Staat. 1938; 26: 39
    • Google Scholar
41. • Küster H
    Uterus bipartitus solidus rudimentarius cum vagina solida.
    Z Geb Gyn. 1910; 67: 692
    • Google Scholar
42. • Muller P
    Malformations et urinaires associées chez la femme.
    Gynaecologia. 1968; 165: 285
    • Google Scholar
43. • Phelan JT
    • Counsellor VS
    • Greene LF
    Deformities of the urinary tract with congenital absence of the vagina.
    Surg Gynecol Obstet. 1953; 97: 1
    • Google Scholar
44. • Griffin JE
    • Edwards C
    • Madden JD
    • et al.
    Congenital absence of the vagina.
    Ann Int Med. 1976; 85: 224
    • Google Scholar
45. • Duncan PA
    • Shapiro LR
    • Klein RM
    The MURCS association.
    Am J Obstet Gynecol. 1987; 156: 1554
    • Google Scholar
46. • Greene RA
    • Bloch MJ
    • Huff DS
    • et al.
    MURCS association with additional congenital anomalies.
    Hum Pathol. 1986; 17: 88
    • Google Scholar
47. • Mendez JP
    • Ulloa-Aguirre A
    • Sanchez FJ
    • et al.
    Endocrine evaluation in a patient with MURCS association and ovarian agenesis.
    Eur J Obs Gyn Repro Biol. 1986; 22: 161
    • Google Scholar
48. • Park IJ
    • Jones HW
    • Nager GT
    • et al.
    A new syndrome in two untreated females: Klippel-Feil deformity, conductive deafness and absent vagina.
    Birth Defects. 1971; Bol VIII: 311
    • Google Scholar
49. • Baird PA
    • Lowry RB
    Absent vagina and KlippehFeil anomaly.
    Am J Obstet Gynecol. 1974; 118: 290
    • Google Scholar
50. • Stott RB
    • Cameron JS
    • Ogg CS
    • et al.
    XO/XX mosaicism in the Rokitansky-Kuster-Hauser syndrome.
    Lancet. 1971; 2: 1380
    • Google Scholar
51. • Linquette M
    • Gasnault JP
    • Dupont-Lecompte J
    • et al.
    Le syndrome de Rokitansky-Kuster-Hauser et les syndromes voisins d'aplasie uterovaginale.
    Rev Fr Endocrinol Clin. 1968; 9: 41
    • Google Scholar
52. • Anger D
    • Hemet J
    • Ensel J
    Forme familial du syndrome de Rokitansky-Kuster-Hauser.
    Bull Fed Gyne Obstet Franc. 1966; 18: 229
    • Google Scholar
53. • Jones HW
    • Mermut S
    Familial occurrence of congenital absence of the vagina.
    Am J Obstet Gynecol. 1972; 114: 1100
    • Google Scholar
54. • Lischke JH
    • Curtis CH
    • Lamb EJ
    • et al.
    Discordance of vaginal agenesis in monozygotic twins.
    Obstet Gynecol. 1973; 41: 920
    • Google Scholar
55. • Shokeir MHK
    Aplasia of the Müllerian system: Evidence for probable sex-limited autosomal dominant inheritance.
    Birth Defects. 1978; 14: 147
    • Google Scholar
56. • Carson SA
    • Simpson JL
    • Malinak LR
    • et al.
    Heritable aspects of uterine anomalies. II. Genetic analysis of Müllerian aplasia.
    Fertil Steril. 1983; 40: 86
    • Google Scholar
57. • Raffensperger JG
    • Ramenofsky ML
    The management of a cloaca.
    J Ped Surg. 1973; 8: 647
    • Google Scholar
58. • Mclndoe A
    Treatment of congenital absence and ob-literative conditions of the vagina.
    Br J Plast Surg. 1950; 2: 254
    • Google Scholar
59. • Frank RT
    The formation of an artificial vagina without operation.
    Am J Obstet Gynecol. 1938; 35: 1053
    • Google Scholar
60. • Jones HW
    • Wheeless CR
    Salvage of the reproductive potential of women with anomalous development of the Müllerian ducts: 1868-1968-2068.
    Am J Obstet Gynecol. 1969; 104: 348
    • Google Scholar
61. • Van Niekerk WA
    True Hermaphroditism. Harper and Row, New York1974
    • Google Scholar
62. • Färber M
    • Marchant DJ
    Reconstructive surgery for congenital atresia of the uterine cervix.
    Fertil Steril. 1976; 27: 1277
    • Google Scholar
63. • Georgy JM
    • Viechnicki MB
    Absence of an ovary and uterine tube.
    Obstet Gynecol. 1974; 44: 441
    • Google Scholar
64. • Dougherty CM
    Anomalies of the tubes.
    in: Dougherty CM Spencer R Female Sex Anomalies. Harper and Row, New York1972: 205-208
    • Google Scholar
65. • Simpson JL
    Genetic aspects of gynecologic disorders occurring in 46,XX individuals.
    Clin Obstet Gynecol. 1972; 15: 157
    • Google Scholar
66. • Semens JP
    Congenital anomalies of female genital tract. Functional classification based on review of 56 personal cases and 500 reported cases.
    Obstet Gynecol. 1962; 68: 371
    • Google Scholar
67. • Hay D
    Uterus unicollis and its relationship to pregnancy.
    J Obstet Gynecol Br Emp. 1961; 82: 330
    • Google Scholar
68. • Greiss FC
    • Manzy CH
    Genital anomalies in women. An evaluation of diagnosis, incidence and obstetric performance.
    Am J Obstet Gynecol. 1961; 82: 330
    • Google Scholar
69. • Verp MS
    • Simpson JL
    • Elias S
    • et al.
    Heritable aspects of uterine anomalies. I. Three familial aggregates with Müllerian fusion anomalies.
    Fertil Steril. 1983; 40: 80
    • Google Scholar
70. • Elias S
    • Simpson JL
    • Carson SA
    • et al.
    Genetic studies in incomplete Müllerian fusion.
    Obstet Gynecol. 1984; 63: 276
    • Google Scholar
71. • Fraser GR
    Our genetical ‚load.’ A review of some as-pects of genetical variation.
    Ann Hum Genet. 1962; 25: 387
    • Google Scholar
72. • Elias S
    • Simpson JL
    • Feingold M
    • et al.
    The hand-foot-uterus syndrome: A rare autosomal dominant disorder.
    Fertil Steril. 1978; 9: 239
    • Google Scholar
73. • Sorensen SS
    Hysteroscopic evaluation and endocrinological aspects of women with Müllerian anomalies and oligomenorrhea.
    Int J Fertil. 1987; 32: 445
    • Google Scholar
74. • Portuondo JA
    • Camara MM
    • Echanojauregui AD
    • et al.
    Müllerian abnormalities in fertile women and recurrent aborters.
    J Repro Med. 1986; 36: 616
    • Google Scholar
75. • Sanfilippo JS
    • Wakim NG
    • Schikler KN
    • et al.
    Endometriosis in association with uterine anomaly.
    Am J Obstet Gynecol. 1986; 154: 39
    • Google Scholar
76. • Ramirez JC
    • Puerta AJ
    • Rebollo A
    • et al.
    Rokitansky's syndrome in association with renoureteral abnormalities.
    Eur Urol. 1987; 13: 346
    • Google Scholar
77. • Buttram VC
    • Zanotti L
    • Acosta AA
    • et al.
    Surgical correction of the septate uterus.
    Fertil Steril. 1974; 25: 373
    • Google Scholar
78. • Muasher SJ
    • Acosta AA
    • Garcia JE
    • et al.
    Wedge me-troplasty for the septate uterus: An update.
    Fertil Steril. 1984; 42: 515
    • Google Scholar
79. • DeCherney A
    • Polan ML
    Hysteroscopic management of intrauterine lesions and intractable uterine bleeding.
    Obstet Gynecol. 1983; 61: 392
    • Google Scholar
80. • Nilson O
    Hernia uteri inguinalis beim manne.
    Acta Chir Scand. 1939; 83: 231
    • Google Scholar
81. • Sloan WR
    • Walsh CR
    Familial persistent Müllerian duct syndrome.
    J Urol. 1976; 115: 459
    • Google Scholar
82. • Brook CGD
    • Wagner H
    • Zachmann M
    • et al.
    Familial occurrence of persistent Müllerian structures in otherwise normal males.
    Br Med J. 1973; 1: 771
    • Google Scholar
83. • Imperato-McGinley J
    • Peterson RE
    Male pseudohermaphroditism: The complexities of male phenotypic development.
    Am J Med. 1976; 61: 251
    • Google Scholar
84. • Bar-Maor JA
    • Nissan S
    • Lernau OZ
    • et al.
    Orchido-pexy in cryptorchidism assessed by clinical, histologic and sperm examinations.
    Surg Gynecol Obstet. 1979; 148: 855
    • Google Scholar
85. • Simpson JL
    • Photopolus G
    The relationship of neoplasia to disorders of abnormal sexual differentiation.
    Birth Defects. 1976; 12: 15
    • Google Scholar
86. • Hershlag A
    • Spitz IM
    • Hochner-Celnikier D
    • et al.
    Persistent Müllerian structures in infertile male.
    Urology. 1986; 28: 138
    • Google Scholar
87. • Bransilver BR
    • Ferenczy A
    • Richart RM
    Female genital tract remnants.
    Arch Path. 1973; 96: 255
    • Google Scholar
88. • McCusick VA
    Mendelian Inheritance in Man. 8th ed. The Johns Hopkins Press, Baltimore1988
    • Google Scholar