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Urorectal Septum Malformation Sequence: Report of Six Cases and Embryological Analysis

Urorectal Septum Malformation Sequence: Report of Six Cases and Embryological Analysis Abstract • We encountered six female infants with a specific pattern of developmental abnormalities of the urogenital and lower Intestinal tracts. The anomalies included ambiguous genitalia, lack of perineal openings, and müllerian and urinary tract anomalies. Each patient had normal female chromosomes and normal adrenal gland function. We believe that this combination of anomalies represents a recognizable and specific sequence that Is due to a failure of migration to and/or fusion of the urorectal septum with the cloacal membrane. This, in turn, we postulate, leads to persistence of the cloaca and cloacal membrane and failure of normal differentiation of the external genitalia. Persistence of the cloacal membrane results in absence of the urethral and vaginal openings and an imperforate anus. We propose calling this entity the urorectal septum malformation sequence. (AJDC 1987;141:1021-1024) References 1. Lubinsky M: Female pseudohermaphroditism and associated anomalies . Am J Med Genet 1980;6:123-136.Crossref 2. Berger G, Klempman S: A case of female pseudohermaphroditism with associated congenital defects: Review of some aetiologic problems . S Afr Med J 1965;39:23-26. 3. Broster L: A form of intersexuality . Br Med J 1956;1:149-151.Crossref 4. Carpentier P, Potter E: Nuclear sex and genital malformations in 48 cases of renal agenesis with special reference to nonspecific female pseudohermaphroditism . Am J Obstet Gynecol 1959;78:235-258. 5. Schlegel R, Aspillaga M: An XX sex chromosome complement in an infant having maletype external genitals, renal agenesis, and other anomalies . J Pediatr 1966;69:812-814.Crossref 6. Wenstrup R, Pagon R: Female pseudohermaphroditism with anorectal, Müllerian duct, and urinary tract malformations: Report of four cases . J Pediatr 1985;107:771-775. 7. Thomalla V, Rudolph R, Rink P, et al: Induction of cloacal exstrophy in the chick embryo using the CO2 laser . J Urol 1985;134:991-995. 8. Robinson H: Agenesis of the cloacal membrane: A probable teratogenic anomaly . Perspect Pediatr Pathol 1984;1:79. 9. Dubowitz V: Virilisation and malformation of a female infant . Lancet 1962;2:405-406.Crossref 10. Gardner R, Nelson M: An association of caudal malformations arising from a defect in the 'axial mesoderm' developmental field . Am J Med Genet 1986;2( (suppl) ):37-44.Crossref 11. Robinow M: Female pseudohermaphroditism with associated anomalies . J Pediatr 1986;108:633. 12. Franks R, Northcutt R: Female pseudohermaphroditism and renal anomalies . AJDC 1963;105:490-496. 13. Lande I, Hamilton E: The antenatal sonographic visualization of cloacal dysgenesis . J Ultrasound Med 1986;5:275-278. 14. Bixler D, Ward R, Gale D: Agnathia-holo-prosencephaly: A developmental field complex involving face and brain . J Craniofac Genet Dev Biol 1985;1( (suppl) ):241-249. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Urorectal Septum Malformation Sequence: Report of Six Cases and Embryological Analysis

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Publisher
American Medical Association
Copyright
Copyright © 1987 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1987.04460090098038
Publisher site
See Article on Publisher Site

Abstract

Abstract • We encountered six female infants with a specific pattern of developmental abnormalities of the urogenital and lower Intestinal tracts. The anomalies included ambiguous genitalia, lack of perineal openings, and müllerian and urinary tract anomalies. Each patient had normal female chromosomes and normal adrenal gland function. We believe that this combination of anomalies represents a recognizable and specific sequence that Is due to a failure of migration to and/or fusion of the urorectal septum with the cloacal membrane. This, in turn, we postulate, leads to persistence of the cloaca and cloacal membrane and failure of normal differentiation of the external genitalia. Persistence of the cloacal membrane results in absence of the urethral and vaginal openings and an imperforate anus. We propose calling this entity the urorectal septum malformation sequence. (AJDC 1987;141:1021-1024) References 1. Lubinsky M: Female pseudohermaphroditism and associated anomalies . Am J Med Genet 1980;6:123-136.Crossref 2. Berger G, Klempman S: A case of female pseudohermaphroditism with associated congenital defects: Review of some aetiologic problems . S Afr Med J 1965;39:23-26. 3. Broster L: A form of intersexuality . Br Med J 1956;1:149-151.Crossref 4. Carpentier P, Potter E: Nuclear sex and genital malformations in 48 cases of renal agenesis with special reference to nonspecific female pseudohermaphroditism . Am J Obstet Gynecol 1959;78:235-258. 5. Schlegel R, Aspillaga M: An XX sex chromosome complement in an infant having maletype external genitals, renal agenesis, and other anomalies . J Pediatr 1966;69:812-814.Crossref 6. Wenstrup R, Pagon R: Female pseudohermaphroditism with anorectal, Müllerian duct, and urinary tract malformations: Report of four cases . J Pediatr 1985;107:771-775. 7. Thomalla V, Rudolph R, Rink P, et al: Induction of cloacal exstrophy in the chick embryo using the CO2 laser . J Urol 1985;134:991-995. 8. Robinson H: Agenesis of the cloacal membrane: A probable teratogenic anomaly . Perspect Pediatr Pathol 1984;1:79. 9. Dubowitz V: Virilisation and malformation of a female infant . Lancet 1962;2:405-406.Crossref 10. Gardner R, Nelson M: An association of caudal malformations arising from a defect in the 'axial mesoderm' developmental field . Am J Med Genet 1986;2( (suppl) ):37-44.Crossref 11. Robinow M: Female pseudohermaphroditism with associated anomalies . J Pediatr 1986;108:633. 12. Franks R, Northcutt R: Female pseudohermaphroditism and renal anomalies . AJDC 1963;105:490-496. 13. Lande I, Hamilton E: The antenatal sonographic visualization of cloacal dysgenesis . J Ultrasound Med 1986;5:275-278. 14. Bixler D, Ward R, Gale D: Agnathia-holo-prosencephaly: A developmental field complex involving face and brain . J Craniofac Genet Dev Biol 1985;1( (suppl) ):241-249.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Sep 1, 1987

References