Sex Determination and Differentiation

2004/01/21 by David T. MacLaughlin, Patricia K. Donahoe · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Sexual Differentiation and Disorders #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Urological Disorders and Treatments #Sexual differentiation #Male pseudohermaphroditism #Disorders of sex development #Embryology #Medicine #Pseudohermaphroditism #Physiology #Sex chromatin #Sex reversal #Internal medicine #Anatomy #Genetics #Biology #Gene

paper · doi:10.1056/nejmra022784

openalex publication_date 2004/01/21 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01

Abstract

This review elucidates the molecular mechanisms of sex determination and sex differentiation with examples from embryology, animal models, and clinical syndromes. Sex reversal, defective masculinization, pseudohermaphroditism, and syndromes involving the gonads and other organs are some of the clinical problems discussed.

Citations

• Androgens and male physiology the syndrome of 5α-reductase-2 deficiency
• Steroidogenic factor I, a key regulator of steroidogenic enzyme expression, is the mouse homolog of fushi tarazu-factor I

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