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[Hermaphroditism pathology].

Francis Jaubert1, Claire Nihoul-Fékété, Stephen Lortat-Jacob

  • 1Service d'Anatomie et de Cytologie Pathologiques (UPRES EA 219), Hôpital Necker Enfants-Malades, Paris, France.

Annales De Pathologie
|March 24, 2005
PubMed
Summary
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Hermaphroditism, or disorders of sex development (DSDs), encompasses genetic and phenotypic discrepancies. This review explores historical, embryological, and etiological factors, including hormonal and genetic defects, and associated tumors.

Area of Science:

  • Reproductive Biology
  • Genetics
  • Endocrinology

Context:

  • Hermaphroditism, now referred to as disorders of sex development (DSDs), involves discrepancies between an individual's genotype and phenotype.
  • This condition requires precise terminology, distinguishing it from sexual ambiguity, which specifically denotes anomalies of external genitalia.

Purpose:

  • To provide a comprehensive overview of DSDs from historical and pathogenetic perspectives.
  • To integrate embryological insights into the study of DSDs.
  • To categorize and discuss various DSDs based on their underlying causes, including hormonal deficiencies and genetic abnormalities.

Summary:

  • The review examines DSDs arising from hormone deficiencies, such as androgen insensitivity, steroid 5 alpha-reductase 2 deficiency, testosterone synthesis defects, and persistent Müllerian duct syndrome.

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  • It further details sexual determinism deficiencies, including Turner syndrome, XX males, pure gonadal dysgenesis, true hermaphroditism, mixed gonadal dysgenesis, and Drash and Frasier syndromes.
  • The study also covers tumors associated with dysgenetic gonads, such as gonadoblastoma and dysgerminoma, as well as sex cord tumors and Leydig cell tumors, highlighting the emerging role of sex reversion genes.

    • Impact:

    • This work offers a structured understanding of the complex etiology and classification of DSDs.
    • It provides a foundation for further research into the genetic and hormonal underpinnings of sex development.
    • The review aims to improve diagnostic and therapeutic strategies for individuals with DSDs.