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Development and Maldevelopment of the Female Reproductive System

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Gynecologic and Obstetric Pathology, Volume 1

Abstract

The female reproductive tract has its embryological origins in the paired Müllerian ducts and their fusion to each other and the urogenital sinus. The Müllerian ducts give rise to the oviducts, uterus, and cervix, while the urogenital sinus forms the vagina and external genitalia. Primordial germ cells formed near the yolk sac migrate to colonize the gonadal ridge, where in females interactions between germ and somatic cells coalesce to create the functional ovarian units known as follicles.

A classical morphologic understanding of the embryology of these structures has served as the foundation for a general understanding of myriad conditions due to maldevelopment or malignant transformation. Increasingly, the molecular underpinnings of these complex underlying developmental transformations are being revealed, yielding deeper insights into the biological basis of female reproductive tract disease pathophysiology and also providing many useful markers, such as Sall4, Foxl2, Wt1, and Pax8, routinely used in clinical practice. In some cases, Müllerian maldevelopment syndromes such as Müllerian agenesis are now known to be caused by mutations in the genes encoding factors required for Müllerian duct development.

The once far-fetched idea that epithelial cells of the oviduct—not the ovary itself—are the origin of most “ovarian” carcinomas now has universal acceptance. Female reproductive tract malignancies of the cervix, uterus, and ovary recently believed to have disparate cellular/embryologic origins are now understood to have a shared origin in the epithelial lining of the Müllerian ducts. This insight rationalizes many prior observations, for example, that the diverse tumor histotypes common to the cervix, endometrium, or tubo-ovarian complex are encountered across each site. This chapter summarizes our understanding of female gonadal and reproductive tract development, with an emphasis on morphologic and molecular aspects that currently appear most relevant to disease pathophysiology.

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Authors and Affiliations

  1. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Diego H. Castrillon

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  1. Diego H. Castrillon
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Editors and Affiliations

  1. Department of Pathology, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Wenxin Zheng

  2. Department of Pathology, University of California San Diego, San Diego, CA, USA

    Oluwole Fadare

  3. Department of Pathology, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA

    Charles Matthew Quick

  4. Department of Pathology, Peking University People’s Hospital, Beijing, China

    Danhua Shen

  5. Department of Obstetrics and Gynecology, Tianjin Gynecologic and Obstetrics Central Hospital, Tianjin, China

    Donghui Guo

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Castrillon, D.H. (2019). Development and Maldevelopment of the Female Reproductive System. In: Zheng, W., Fadare, O., Quick, C., Shen, D., Guo, D. (eds) Gynecologic and Obstetric Pathology, Volume 1. Springer, Singapore. https://doi.org/10.1007/978-981-13-3016-2_1

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