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Updated: Feb 24, 2026

Formation of Human Prostate Epithelium Using Tissue Recombination of Rodent Urogenital Sinus Mesenchyme and Human Stem Cells
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Human Sex Development: from Basic Science to Clinical Practice and Back.

Anna Biason-Lauber1

  • 1University of Fribourg, Dept of Medicine, Chemin du Musee, 5, 1700 Fribourg, Switzerland,

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|August 29, 2017
PubMed
Summary

Sexual differentiation involves sex determination and phenotypic development. This review explores factors in gonadal determination and diagnostic approaches for disorders of sex development (DSD).

Keywords:
Bipotential stateDisorders of sex development (DSD)Sex determinationSex developmentSex differentiationTestisovary

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Area of Science:

  • Developmental Biology
  • Genetics
  • Endocrinology

Background:

  • Sexual differentiation is crucial for metazoan reproduction and organism maintenance.
  • Key processes include sex determination (initial decision) and sex differentiation (phenotypic development).
  • Knowledge is derived from animal models and human disorders of sex development (DSD).

Purpose of the Study:

  • To review factors influencing gonadal determination.
  • To discuss clinical cases of DSD.
  • To present diagnostic procedures for DSD.

Main Methods:

  • Literature review focusing on gonadal determination factors.
  • Analysis of clinical cases with mismatched genetic, gonadal, and phenotypic sex.
  • Discussion of diagnostic strategies for DSD.

Main Results:

  • Identified key factors involved in gonadal determination.
  • Highlighted 'prismatic' clinical cases illustrating DSD complexities.
  • Outlined diagnostic pathways for patients with DSD.

Conclusions:

  • Understanding gonadal determination factors is essential for comprehending sexual development.
  • Clinical DSD cases provide critical insights into these processes.
  • Standardized diagnostic procedures are vital for managing DSD effectively.