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Genetic of gonadal determination
Yves Morel1, Florence Roucher1, Delphine Mallet1
1Service d'hormonologie, d'endocrinologie moléculaire et des maladies rares, centre de biologie et pathologie Est, université Lyon 1, groupement hospitalier Est- HCL, 59, boulevard Pinel, 69677 Bron cedex, France.
Annales D'Endocrinologie
|May 6, 2014
Summary
Fetal sexual differentiation involves complex signaling and hormones for gonad determination and genitalia development. This review examines genetic models and disorders of sex development (DSD) to understand these processes.
Area of Science:
- Developmental Biology
- Endocrinology
- Genetics
Background:
- Fetal sexual differentiation is a precisely timed process involving intricate intracellular signaling and hormonal interactions.
- This developmental cascade establishes gonad determination and the formation of internal and external genitalia, leading to either a male or female phenotype.
Purpose of the Study:
- To review current knowledge on the mechanisms of gonadal determination.
- To integrate findings from genetic studies and clinical observations in disorders of sex development (DSD).
Main Methods:
- Analysis of knock-out and transgenic mouse models.
- Review of patient data from disorders of sex development (DSD) studies.
Main Results:
- Insights from genetic models highlight key genes and pathways regulating gonad development.
- Patient analyses reveal the phenotypic consequences of disruptions in sexual differentiation pathways.
Conclusions:
- Understanding fetal sexual differentiation requires integrating data from experimental models and human DSD cases.
- Further research into these interactions will elucidate the molecular basis of sex determination and DSD.
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