Testis development

: Mäkelä Juho-Antti, Koskenniemi Jaakko J., Virtanen Helena E., Toppari Jorma

Publisher: Endocrine Society

: 2019

: Endocrine Reviews

: Endocrine reviews

: Endocr Rev

: 40

: 4

: 857

: 905

: 49

: 0163-769X

: 1945-7189

DOI: https://doi.org/10.1210/er.2018-00140

Production of sperm and androgens is the main function of the testis. This depends on normal development of both testicular somatic cells and germ cells. Genetic program initiated from the Y chromosome gene SRY (sex-determining region Y) directs somatic cell specification to Sertoli cells that orchestrate further development. They first guide fetal germ cell differentiation towards spermatogenic destiny, and then take care of the full service to spermatogenic cells during spermatogenesis. The number of Sertoli cells sets the limits of sperm production. Leydig cells secrete androgens that determine masculine development. Testis development does not depend on germ cells, i.e. testicular somatic cells also develop in the absence of germ cells, and the testis can produce testosterone normally to induce full masculinization in these men. In contrast, spermatogenic cell development is totally dependent on somatic cells. Here we review germ cell differentiation from primordial germ cells to spermatogonia and development of the supporting somatic cells. Testicular descent to scrota is necessary for normal spermatogenesis, and cryptorchidism is the most common male birth defect. This is a mild form of disorder of sex differentiation (DSD). Multiple genetic reasons for more severe forms of DSD have been revealed during the last decades, and these are described along the description of molecular regulation of testis development.