Molecular and genetic regulation of testis descent and external genitalia development

Thomas Klonisch, Paul A Fowler, Sabine Hombach-Klonisch

Research output: Contribution to journalLiterature review

138 Citations (Scopus)

Abstract

Testicular descent as a prerequisite for the production of mature spermatozoa and normal external genitalia morphogenesis, and therefore facilitating copulation and internal fertilization, are essential developmental steps in reproduction of vertebrate species. Cryptorchidism, the failure of testis descent, and feminization of external genitalia in the male, usually in the form of hypospadias, in which the opening of the urethra occurs along the ventral aspect of the penis, are the most frequent pediatric complications. Thus, elucidating the molecular mechanisms involved in the regulation of testis descent and the formation of external genitalia merits a special focus. Natural and transgenic rodent models have demonstrated both morphogenic processes to be under the control of a plethora of genetic factors with complex time-, space-, and dose-restricted expression pattern. The review elucidates the molecular mechanisms involved in the regulation of testis descent and the formation of external genitalia and, wherever possible, assesses the differences between these rodent animal models and other mammalian species, including human. (C) 2004 Elsevier Inc. All rights reserved.

Original languageEnglish
Pages (from-to)1-18
Number of pages18
JournalDevelopmental Biology
Volume270
Issue number1
Early online date12 Apr 2004
DOIs
Publication statusPublished - 1 Jun 2004

Keywords

  • testis descent
  • genitalia development
  • molecular regulation
  • genetic regulation
  • mullerian-inhibiting substance
  • gonadotropin-releasing-hormone
  • relaxin-like factor
  • androgen receptor expression
  • follicle-stimulating-hormone
  • serum testosterone concentrations
  • pituitary-gonadal function
  • steroidogenic factor-I
  • insulin-like peptide
  • Wilms-tumor gene

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