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Hermaphroditism pathology.

F Jaubert1, C Nihoul-Fékété, S Lortat-Jacob

  • 1Department of Cytology and Pathology (UPRES EA 219), Hospital Necker Enfants-Malades, Paris, France.

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie
|April 26, 2005
PubMed
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Hermaphroditism, a discrepancy between genetic and physical sex, is explored historically and pathologically. This review covers hormonal deficiencies, sexual determinism defects, and associated tumors, with new insights from sex reversion genes.

Area of Science:

  • Reproductive Biology
  • Medical Genetics
  • Endocrinology

Background:

  • Hermaphroditism is a broad term for sex development discrepancies, distinct from sexual ambiguity focused on external genitalia.
  • Understanding its historical and pathogenetic basis is crucial for diagnosing and managing these conditions.

Purpose of the Study:

  • To provide a comprehensive overview of hermaphroditism from historical and pathogenetic perspectives.
  • To detail various defects in sexual differentiation, determinism, and associated tumors.

Main Methods:

  • Review of historical and pathogenetic literature on sexual development disorders.
  • Integration of embryological summaries.
  • Categorization of defects based on hormonal deficiency and sexual determinism.

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Main Results:

  • Detailed study of hormonal deficiencies: androgen insensitivity, steroid 5 alpha-reductase 2 deficiency, testosterone synthesis defects, persistent Müllerian duct syndrome.
  • Analysis of sexual determinism deficiencies: Turner syndrome, XX males, gonadal dysgenesis (pure and mixed), true hermaphroditism, Drash and Frasier syndromes.
  • Identification of tumors in dysgenetic gonads (gonadoblastoma, dysgerminoma) and sex cord tumors (androgen insensitivity-associated, Leydig cell, adrenal cell inclusion).

Conclusions:

  • Hermaphroditism encompasses a spectrum of disorders affecting sex development.
  • Understanding the genetic and hormonal underpinnings is key to classifying these conditions.
  • Emerging research on sex reversion genes offers new avenues for study and potential therapeutic targets.