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1 - Embryology of the female genital tract

from Part I - Normal development

Published online by Cambridge University Press:  04 May 2010

Fergus Cameron
Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia
Craig Smith
Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia
Adam H. Balen
Leeds Teaching Hospitals, University Trust
Sarah M. Creighton
University College London Hospitals
Melanie C. Davies
University College London
Jane MacDougall
Addenbrooke's Hospital, Cambridge
Richard Stanhope
Great Ormond Street Hospital
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Regardless of their sex, all human embryos initially develop a common set of genital structures. A pair of primordial gonads, the genital ridges, appear in both males and females during the sixth week of embryonic life. Two associated ducts develop, the Müllerian and Wollfian ducts, while presumptive external genitalia appear as folds of cloacal tissue. The fate of these undifferentiated internal and external structures depends upon the genetic sex of the embryo. In individuals with an XY sex chromosome constitution, the genital ridges become testes. Hormones released from the developing testes masculinize the internal ducts and external genitalia. Sertoli cells of the fetal testes synthesize anti-Müllerian Hormone (AMH; also known as Müllerian inhibitory substance), which induces Müllerian duct regression. Meanwhile, testosterone secretion from Leydig cells induces Wolffian duct differentiation into vas deferens, and virilization of the external genitalia into penis and scrotum. Testis differentiation is initiated by the SRY gene (sex-determining region of the Y chromosome). In individuals with an XX sex chromosome constitution, SRY is absent and the genital ridges differentiate as ovaries rather than testes. Furthermore, in the absence of AMH and testosterone, the ducts follow alternative developmental paths. In the absence of AMH, the Müllerian ducts are free to differentiate into the Fallopian tubes, uterus and upper portion of the vagina. In the absence of testosterone, the Wolffian ducts regress. The external genitalia of female embryos differentiate into clitoris and labia.

Paediatric and Adolescent Gynaecology
A Multidisciplinary Approach
, pp. 3 - 8
Publisher: Cambridge University Press
Print publication year: 2004

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Bale, P M, Howard, N J, Wright, J E (1992). Male pseudohermaphroditism in XY children with female phenotype. Pediatr Pathol 12, 29–49CrossRefGoogle ScholarPubMed
Behringer, R R (1995). The mullerian inhibitor and mammalian sexual development. Philos Trans R Soc Lond B Biol Sci 350, 285–288CrossRefGoogle ScholarPubMed
Bongiovanni, A M (1962). The adrenogenital syndrome with deficiency of 3β-hydroxysteroid dehydrogenase. J Clin Invest 41, 2086–2092CrossRefGoogle Scholar
Byskow A G and Hoyer P E (1988). Embryology of mammalian gonads and ducts. The Physiology of Reproduction, pp. 265–302. Raven Press, New York
Carpentier, P J and Potter, E L (1959). Nuclear sex, genital malformation in 48 cases of renal agenesis with special reference to nonspecific female pseudohermaphroditism. Am J Obstet Gynecol 78, 235–258CrossRefGoogle Scholar
Federman, D D, Donahoe, P K (1995). Ambiguous genitalia: etiology diagnosis and therapy. Adv Endocrinol Metab 6, 91–116Google ScholarPubMed
Ferenczy, A, Richart, R M (1972). The fine structures of the gonads in the complete form of testicular feminization syndrome. Am J Obstet Gynecol 113, 399–409CrossRefGoogle Scholar
Fisher D A (1992). Endocrinology of fetal development. Williams' Textbook of Endocrinology, 8th edn, pp. 1049–1077. Saunders, Philadelphia, PA
Gearhart, J P, Rock, J D (1989). Female pseudohermaphroditism; unusual variants and their management. Adolesc Pediatr Gynecol 2, 3–9CrossRefGoogle Scholar
Grobstein, C (1955). Tissue interactions in the morphogenesis of the mouse metanephros. J Exp Zool 130, 319–340CrossRefGoogle Scholar
Grootegoed, J A, Baarends, W M, Themmen, A P (1994). Welcome to the family: the anti-mullerian receptor. Mol Cell Endocrinol 100, 29–34CrossRefGoogle ScholarPubMed
Grumbach M M, Conte F A (1992). Disorders of sex differentiation. Williams' Textbook of Endocrinology, 8th edn pp. 853–951. Saunders, Philadelphia, PA
Hunter R H F (1995). Sex Determination, Differentiation and Intersexuality in Placental Mammals. Cambridge University Press, Cambridge
Hutson, J M, Williams, M P L, Fallat, M E, Attah, A (1990). Testicular descent: new insights into its hormonal control. Oxford Rev Reprod Biol 12, 1–56Google ScholarPubMed
Jirasek J E (1971). Development of the Genital System and Male Pseudohermaphroditism. Johns Hopkins Press, Baltimore, MD
Jones H W J (1981). Nonadrenal female pseudohermaphroditism. The Intersex Child: Pediatric and Adolescent Endocrinology, pp. 65–79. Karger, Basel
Josso, N, Picard, J-Y, Tran, D (1977). The antimullerian hormone. Rec Prog Horm Res 33, 117–167Google Scholar
Josso, N, Legeai, L, Forest, M G, Chaussain, J L, Brauner, R (1990). An enzyme-linked immunoassay for anti-Mullerian hormone: a new tool for the evaluation of testicular function in infants and children. J Clin Endocrinol Metab 70, 23–27CrossRefGoogle ScholarPubMed
Josso, N, Boussin, L, Knebelmann, B, Fekete, C N, Picard, J Y (1991). Anti-mullerian hormone and intersex states. Trends Endocrinol Metab 2, 227–233CrossRefGoogle ScholarPubMed
Kirk, J M, Perry, L A, Shard, W S (1990). Female pseudohermaphroditism due to a maternal adrenocortical tumour. J Clin Endocrinol Metab 70, 1280–1284CrossRefGoogle Scholar
Knebelmann, B, Boussin, L, Guerrier, D et al. (1991). Anti-Mullerian hormone Bruxelles: a nonsense mutation associated with the persistent Mullerian duct syndrome. Proc Natl Acad Sci USA 88, 3767–71CrossRefGoogle ScholarPubMed
Kreidberg, J A, Sariola, H, Loring, J M et al. (1993). WT-1 is required for early kidney development. Cell 74, 679–691CrossRefGoogle ScholarPubMed
Kremer, H, Kraaij, R, Toledo, S P A et al. (1995). Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat Genet 9, 160–164CrossRefGoogle ScholarPubMed
Larsen W J (1993). Human Embryology. Churchill Livingstone, New York
Latronico, A C, Anasti, J, Arnhold, I J et al. (1996). Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. N Engl J Med 334, 507–512CrossRefGoogle ScholarPubMed
Migeon C J, Brown T R, Fichman K R (1981). Androgen insensitivity syndrome. The Intersex child: Pediatric and Adolescent Endocrinology, pp. 171–202. Karger, Basel
Moore K L (1988). The Developing Human: Clinically Orientated Embryology. Saunders, Philadelphia, PA
New M I, White P C, Pang S, Dupont B, Speiser P (1989). The adrenal hyperplasias. In Schriver, C R, Beaudet A, Sly W, Valle D eds., The Inherited Basis of Molecular Disease, 6th edn, pp. 1881–1917. McGraw-Hill, New York
New, M I (1992). Female pseudohermaphroditism. Sem Perinatol 16, 299–318Google ScholarPubMed
O'Leary, J A (1965). Comparative studies of the gonad in testicular feminization and cryptorchidism. Fertil Steril 16, 813–819CrossRefGoogle ScholarPubMed
Pang, S, Levine, L S, Stoner, E et al. (1983). Nonsalt-losing congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency with normal glomerulosa function. J Clin Endocrinol Metab 56, 808–818CrossRefGoogle Scholar
Rosler, A, Liberman, E, Sack, et al. (1982). Clinical variability of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Horm Res 16, 133–141Google Scholar
Schuchardt, A, D'Agati, V, Larsson-Blomberg, L, Constantini, F, Pachnis, V (1994). Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor. Nature 367, 380–383CrossRefGoogle ScholarPubMed
Seaver, L H, Grimes, J, Erickson, R P (1994). Female pseudohermaphroditism with multiple caudal anomalies: absence of Y-specific DNA sequences as pathogenetic factors. Am J Med Genet 51, 16–21CrossRefGoogle ScholarPubMed
Shozu, M, Akasofu, K, Takenori, T, Kubota, Y (1991). A new cause of female pseudohermaphroditism: placental aromatase deficiency. J Clin Endocrinol Metab 72, 560–566CrossRefGoogle ScholarPubMed
Stark, K, Vainio, S, Vassileva, G, McMahon, A P (1994). Epithelial transformation of metanephric mesenchyme in the developing kidney regulated byWnt-4. Nature 372, 679–683CrossRefGoogle Scholar
Torres, M, Gomez-Pardo, E, Dressler, G R, Gruss, P (1995). Pax-2 controls multiple steps of urogenital development. Development 121, 4057–4065Google ScholarPubMed
Tran, D, Meusy-Desolle, N, Josso, N (1977). Anti-Mullerian hormone as a functional marker of foetal Sertoli cells. Nature 269, 411–412CrossRefGoogle ScholarPubMed
Tran, D (1981). Waning of anti-Mullerian activity: an early sign of Sertoli cell maturation in the developing pig. Biol Reprod 24, 923–931CrossRefGoogle ScholarPubMed
Vigier, B, Watrin, F, Magre, S, Tran, D, Josso, N (1987). Purified bovine AMH induces a characteristic freemartin effect in fetal rat prospective ovaries exposed to it in vitro. Development 100, 43–55Google ScholarPubMed
Prader, A (1954). Der genitalbefund beim Pseudohermaproditismus femininus des kongenitalen adrenogenitalen Syndroms Morphologie Hausfigkeit Entwicklung und Vererbung der verschiedenen Genitalformen. Helv Pediatr Acta 9, 231–248Google Scholar
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