Genital System Development
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The male and female reproductive systems develop initially "indifferently", it is the product of the Y chromosome SRY gene that makes the "difference". Mesonephric duct (Wolffian Duct) and paramesonephric (Müllerian Duct) contribute the majority of male and female internal genital tract respectively.
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 | Online Practical | Primordial Germ Cell | Meiosis | Female | Ovary | Oocyte | Uterus | Vagina | Male | Testis | Spermatozoa | Prostate | Genital Movies | Abnormalities | Assisted Reproductive Technology | Puberty | Category:Genital
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.
Shuichang Yu, Yanbo Zhu, Fang Li, Yujuan Zhang, Chunlin Xia Differentiation of human embryonic germ cells and transplantation in rats with acute myocardial infarction. Exp Ther Med: 2014, 7(3);615-620 PMID:24520255 Chaoshe Guo, Ye Sun, Chunming Guo, Bryan T MacDonald, Joseph G Borer, Xue Li Dkk1 in the peri-cloaca mesenchyme regulates formation of anorectal and genitourinary tracts. Dev. Biol.: 2014, 385(1);41-51 PMID:24479159 Terje Svingen, Peter Koopman Building the mammalian testis: origins, differentiation, and assembly of the component cell populations. Genes Dev.: 2013, 27(22);2409-26 PMID:24240231 Maria Beisert, Aleksandra Chodecka, Karina Kapczuk, Katarzyna Walczyk-Matyja, Zbigniew Friebe, Witold Kedzia [Sexuality of a woman with Mayer-Rokitansky-Küster-Hauser syndrome--case report]. Ginekol. Pol.: 2013, 84(9);811-4 PMID:24191522 Simon E Skalicky, Andrew J R White, John R Grigg, Frank Martin, Jeremy Smith, Michael Jones, Craig Donaldson, James E H Smith, Maree Flaherty, Robyn V Jamieson Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features: Understanding the Spectrum. JAMA Ophthalmol: 2013; PMID:24177921
- 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)
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.
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|
- ↑ 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 PMID: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 PMID: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 PMID: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 PMID:19159697
- ↑ Dagmar Wilhelm, Stephen Palmer, Peter Koopman Sex determination and gonadal development in mammals. Physiol. Rev.: 2007, 87(1);1-28 PMID:17237341 | Physiol. Rev.
Search April 2010
- Genital System Development - All (868) Review (212) Free Full Text (170)
- Genital Development - All (5365) Review (1170) Free Full Text (1024)
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Cite this page: Hill, M.A. (2014) Embryology Genital System Development. Retrieved March 12, 2014, from http://embryology.med.unsw.edu.au/embryology/index.php?title=Genital_System_Development
- Dr Mark Hill 2014, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G