Genital System Development
|Embryology - 29 Apr 2016 Translate|
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- 1 Introduction
- 2 Some Recent Findings
- 3 Textbooks
- 4 Objectives
- 5 Movies
- 6 Development Overview
- 7 Gender by Ultrasound
- 8 Sexual Development Genes
- 9 Animal Models
- 10 Historic
- 11 Additional Images
- 12 References
- 13 Terms
- 14 Glossary Links
The male and female reproductive systems develop initially embryonically "indifferent", it is the product of the Y chromosome SRY gene that makes the "difference".
Development of this system commences in the embryo, continues through the fetal period then with key changes around birth, only completes functional development postnatally at puberty. The mesonephric/paramesonephric duct changes are one of the first male/female differences that occur in development, while external genitaila remain indeterminate in appearance for quite a while.
There are many different issues to consider in the development of the genital system. Importantly its sex chromosome dependence, late embryonic/fetal differential development, complex morphogenic changes, long time-course, hormonal sensitivity and hormonal influences make it a system prone to many different abnormalities.
This current page provides only a general introduction to the topic, use the links listed below to read about specific developmental topics.
- Genital Links: Introduction | Lecture - Medicine | Lecture - Science | Medicine - Practical | Primordial Germ Cell | Meiosis | Female | Ovary | Oocyte | Uterus | Vagina | Reproductive Cycles | Menstrual Cycle | Male | Testis | Spermatozoa | Prostate | Genital Movies | Abnormalities | Assisted Reproductive Technology | Puberty | Category:Genital
|Historic Embryology - Genital|
|1902 The Uro-Genital System | 1912 Urinogenital Organ Development | 1921 Urogenital Development | 1921 External Genital Development | 1927 Female Foetus 15 cm | 1943 Testes Descent | Historic Disclaimer|
Some Recent Findings
|More recent papers|
References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.
Vasileios Rafailidis, Sotirios Varelas, Foteini Apostolopoulou, Dimitrios Rafailidis Nonobliteration of the Processus Vaginalis: Sonography of Related Abnormalities in Children. J Ultrasound Med: 2016; PubMed 26960801
Grigoris F Grimbizis, Attilio Di Spiezio Sardo, Sotirios H Saravelos, Stephan Gordts, Caterina Exacoustos, Dominique Van Schoubroeck, Carmina Bermejo, Nazar N Amso, Geeta Nargund, Dirk Timmermann, Apostolos Athanasiadis, Sara Brucker, Carlo De Angelis, Marco Gergolet, Tin Chiu Li, Vasilios Tanos, Basil Tarlatzis, Roy Farquharson, Luca Gianaroli, Rudi Campo The Thessaloniki ESHRE/ESGE consensus on diagnosis of female genital anomalies. Gynecol Surg: 2015, 13;1-16 PubMed 26918000
Narin Liman, Emel Alan Region-specific localization of NOS isoforms and NADPH-diaphorase activity in the intratesticular and excurrent duct systems of adult domestic cats (Felis catus). Microsc. Res. Tech.: 2016, 79(3);192-208 PubMed 26910642
Tengfei Liu, Xiaoya Chu, Yufei Huang, Ping Yang, Quanfu Li, Lisi Hu, Hong Chen, Qiusheng Chen Androgen-related sperm storage in oviduct of Chinese Soft-Shelled Turtle in vivo during annual cycle. Sci Rep: 2016, 6;20456 PubMed 26847578
Faruk Haziselimovic Re: Bilateral isolated epididymal agenesis in a 32 year old man. Int Braz J Urol: 2015, 41(5);1032 PubMed 26689532
- Human Embryology (2nd ed.) Larson Chapter 10 p261-306
- The Developing Human: Clinically Oriented Embryology (6th ed.) Moore and Persaud Chapter 13 p303-346
- Before We Are Born (5th ed.) Moore and Persaud Chapter 14 p289-326
- Essentials of Human Embryology, Larson Chapter 10 p173-205
- Human Embryology, Fitzgerald and Fitzgerald Chapter 21-22 p134-152
- Developmental Biology (6th ed.) Gilbert Chapter 14 Intermediate Mesoderm
- Understand the role of the Y chromosome in sex determination.
- Understand the differences in male/female duct develpoment (mesonephric/paramesonephric).
- Compare the development of the cloaca in the male and female.
- Understand the developmental abnormalities in male and female development.
|Mouse Primordial Germ Cell Migration|
Three main stages during development, mesonephric/paramesonephric duct changes are one of the first male/female differences that occur in development, while external genitaila remain indeterminate in appearance for quite a while.
- Differentiation of gonad (Sex determination)
- Differentiation of internal genital organs
- Differentiation of external genital organs
The 2nd and 3rd stages dependent on endocrine gonad. Reproductive development has a long maturation timecourse, begining in the embryo and finishing in puberty. (More? Puberty Development)
Gender by Ultrasound
A 2012 Czech ultrasound study of 1222 singleton pregnancies has attempted to determine the earliest gestational age GA that fetal gender may reliably be determined. Their study concluded "when CRL ≥ 60 mm (gestational age ≥ 12+2). Male gender may already be reliably determined when CRL ≥ 55 mm (gestational age ≥ 12+0). If CRL < 50 mm (gestational age < 11+4) the gender cannot be reliably predicted."
- Links: Ultrasound
Sexual Development Genes
Table below modified from Table 1. Genes implicated in sexual development in mammals in recent review article.
|Gene||Protein Function||Gonad Phenotype of Null Mice||Human Syndrome|
|Wt1||Transcription factor||Blockage in genital ridge development||Denys-Drash, WAGR, Frasier syndrome|
|Sf1||Nuclear receptor||Blockage in genital ridge development||Embryonic testicular regression syndrome|
|Lhx9||Transcription factor||Blockage in genital ridge development||a|
|Emx2||Transcription factor||Blockage in genital ridge development||a|
|M33||Transcription factor||Gonadal dysgenesis||a|
|Gata4/Fog2||Transcription/cofactor||Reduced Sry levels, XY sex reversal||a|
|Sry||Transcription factor||XY sex reversal||XY sex reversal (LOF); XX sex reversal (GOF)|
|Sox9||Transcription factor||XY sex reversal||Campomelic dysplasia, XX sex reversal (GOF)|
|Sox8||Transcription factor||XY sex reversal in combination with partial loss of Sox9 function||a|
|Fgf9||Signaling molecule||XY sex reversal||a|
|Dax1||Nuclear receptor||Impaired testis cord formation and spermatogenesis||Hypogonadism|
|Pod1||Transcription factor||XY sex reversal||a|
|Dhh||Signaling molecule||Impaired differentiation of Leydig and PM cells||XY gonadal dysgenesis|
|Pgdra||Receptor||Reduction in mesonephric cell migration||a|
|Arx||Transcription factor||Abnormal testicular differentiation||X-linked lissencephaly with abnormal genitalia|
|Insl3||Signaling factor||Blockage of testicular descent||Cryptorchidism|
|Lgr8||Receptor||Blockage of testicular descent||Cryptorchidism|
|Hoxa10||Transcription factor||Blockage of testicular descent||Cryptorchidism|
|Hoxal1||Transcription factor||Blockage of testicular descent||Cryptorchidism|
|Amh||Hormone||No Müllerian duct degeneration||Persistent Müllerian duct syndrome|
|Misrl1||Receptor||No Müllerian duct degeneration||Persistent Müllerian duct syndrome|
|Pax2||Transcription factor||Dysgenesis of mesonephric tubules||a|
|Lim1||Transcription factor||Agenesis of Wolffian and Müllerian ducts||a|
|Dmrt1||Transcription factor||Loss of Sertoli and germ cells||XY femaleb|
|Wnt4||Signaling molecule||Müllerian duct agenesis, testosterone synthesis, and coelomic vessel formation||XY female (GOF)|
|FoxL2||Transcription factor||Premature ovarian failure||BPES|
|Dax1||Nuclear receptor||XY sex reversal (GOF)||XY sex reversal (GOF)|
a No mutations in human sexual disorders identified to date.
b Candidate gene for 9p deletion, XY sex reversal.
Mouse E11.0 to E12.0 shows the critical transition in the gonad from a bipotential to sexually-differentiated state. Based upon transcriptome analysis.
See also section Historic Embryology Images.
Historic Images of Genital Changes
|Urogenital indifferent||Urogenital male||Urogenital female|
Rabbit Gonad Development Timeline PMID 23593221
Stages of primordial germ cell migration PMID 20027186
Historic Embryology Images
|Historic Disclaimer - information about historic embryology pages|
(More? Embryology History | Historic Embryology Papers)
Keith, A. (1902) Human Embryology and Morphology. London: Edward Arnold.
- The Uro-genital System: Fig. 79. Wolffian Body | Fig. 80. Wolffian and Genital Ridges | Fig. 81. Female Wolffian Body Remnants | Fig. 82. Male Wolffian Body Remnants |Fig. 83. Renal Bud | Fig. 84. Ureter in the Bladder | Fig. 85. Wolffian and Müllerian Ducts | Fig. 86. Genital Ducts 3rd month | Fig. 87. Müllerian Ducts 3rd month | Fig. 88. Uterus | Fig. 89. Uterus and Vagina | Fig. 90. Prostate remnants of Müllerian Ducts | Fig. 91. Prostate showing an unusual Uterus Masculinus | Fig. 92. Female Uro-genital Sinus | Fig. 93. Male Uro-genital Sinus | Fig. 94. Vagina and Uterus at 7th month | Fig. 95. Division of the Cloaca | Fig. 96. Imperforate Anus | Fig. 97. Cloacal Septum has failed to fuse with Perineal Septum | Fig. 98. The Uro-genital Cleft 2nd month | Fig. 99. Male bladder and urethra at birth | Fig. 100. Ectopia Vesicae | Fig. 101. Prostatic Tubules | Fig. 102. Testis in a foetus of 2£ months | Fig. 103. Testis at the 6th month | Fig. 104. Inguinal Canal and Coverings of the Testis | Fig. 105. Processus Vaginalis | Figures
- Steven C Munger, Anirudh Natarajan, Loren L Looger, Uwe Ohler, Blanche Capel Fine time course expression analysis identifies cascades of activation and repression and maps a putative regulator of mammalian sex determination. PLoS Genet.: 2013, 9(7);e1003630 PubMed 23874228
- Simone Funke, Edina Flach, István Kiss, János Sándor, Gabriella Vida, József Bódis, Tibor Ertl Male reproductive tract abnormalities: more common after assisted reproduction? Early Hum. Dev.: 2010, 86(9);547-50 PubMed 20674196
- Congxing Lin, Yan Yin, G Michael Veith, Alexander V Fisher, Fanxin Long, Liang Ma Temporal and spatial dissection of Shh signaling in genital tubercle development. Development: 2009, 136(23);3959-67 PubMed 19906863
- Xinyu Wu, Christopher Ferrara, Ellen Shapiro, Irina Grishina Bmp7 expression and null phenotype in the urogenital system suggest a role in re-organization of the urethral epithelium. Gene Expr. Patterns: 2009, 9(4);224-30 PubMed 19159697
- Marek Lubusky, Martina Studnickova, Ales Skrivanek, Katherine Vomackova, Martin Prochazka Ultrasound evaluation of fetal gender at 12-14 weeks. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub: 2012, 156(4);324-9 PubMed 22660228 | Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub.
- Dagmar Wilhelm, Stephen Palmer, Peter Koopman Sex determination and gonadal development in mammals. Physiol. Rev.: 2007, 87(1);1-28 PubMed 17237341 | Physiol. Rev.
Martin J Cohn Development of the external genitalia: conserved and divergent mechanisms of appendage patterning. Dev. Dyn.: 2011, 240(5);1108-15 PubMed 21465625
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Cite this page: Hill, M.A. (2016) Embryology Genital System Development. Retrieved April 29, 2016, from https://embryology.med.unsw.edu.au/embryology/index.php/Genital_System_Development
- © Dr Mark Hill 2016, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G