Equis ISSN 2398-2977

Reproduction: gonadal dysgenesis

Contributor(s): Terry Blanchard, William Ley, Graham Munroe, Sarah Stoneham, Madeleine L H Campbell

Introduction

  • Gonadal dysgenesis results from chromosomal abnormalities in females.
  • Cause: genetic abnormality of the chromosome resulting in range of phenotypic abnormalities of the genitalia. Most commonly reported chromosome abnormality is 63XO (missing sex chromosome). Klinefelter's syndrome (rare) occurs when an extra X chromosome occurs with an XY, ie XXY; the individual is phenotypically male. Intersex occurs in XX females with masculinizing gene either mutated or collected from the Y chromosome.
  • Signs: depends on the chromosomal abnormality.
  • Diagnosis: full clinical fertility examination, palpation per rectum, blood testing.
  • Treatment: no treatment is possible.
  • Prognosis: confirmed gonadal dysgenesis are usually infertile; some mosaic types may be capable of limited breeding.

Pathogenesis

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Diagnosis

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Treatment

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Prevention

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Outcomes

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Further Reading

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