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True Agonadism

  • Living reference work entry
  • First Online:
Encyclopedia of Pathology

Part of the book series: Encyclopedia of Pathology ((EP))

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Synonyms

46, XY gonadal dysgenesis syndrome; Embryonic testicular regression syndrome

Definition

This syndrome is characterized by the absence of both gonads in patients with female external genitalia. The most frequent karyotype is 46, XY (gonadal dysgenesis syndrome) and 46, XX in isolated cases.

Clinical Features

The most frequent clinical symptoms are primary amenorrhea and delayed puberty. The external genitalia are normal female (absence of clitoromegaly or labioscrotal fusion). The patients have short stature, minimal breast development, and scarce pubic hair; marked elevation of gonadotropins and low levels of testosterone and estrogen. Laparoscopic study, in most cases, shows absence of uterus, fallopian tubes, and gonads. Sometimes there are hypoplastic fallopian tubes. Vaginoscopy does not show cervix. Agonadism can be associated with other syndromes: PAGOD, Kennerknecht, Seckel and Charge, and congenital adrenal hyperplasia (Soveid and Rais-Jalali 2016).

  • Incidence

    Very rare.

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References and Further Reading

  • Erickson, R. P., Yatsenko, S. A., Larson, K., & Cheung, S. W. (2011). A case of agonadism, skeletal malformations, bicuspid aortic valve, and delayed development with a 16p13.3 duplication including gng13 and sox8 upstream enhancers: Are either, both or neither involved in the phenotype? Molecular Syndromology, 1, 185–191.

    Article  CAS  Google Scholar 

  • Hunter, J. D., Pierce, S. R., Calikoglu, A. S., & Howell, J. O. (2016). Embryonic testicular regression syndrome presenting as primary amenorrhea: A case report and review of disorders of sexual development. Journal of Pediatric and Adolescent Gynecology, 29(4), e59–e62.

    Article  CAS  Google Scholar 

  • Soveid, M. M., & Rais-Jalali, G. A. M. (2016). Seventeen alpha-hydroxylase deficiency associated with absent gonads and myelolipoma: A case report and review of literature. Iran Journal of Medical Science, 41, 543–547.

    Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Anatomy, Histology and Neuroscience, Universidad Autónoma de Madrid, Madrid, Spain

    Manuel Nistal

  2. Department of Pathology, Universidad Autónoma de Madrid, Madrid, Spain

    Pilar González-Peramato

  3. Department of Pathology, University Hospital La Paz, Madrid, Spain

    Pilar González-Peramato

Authors
  1. Manuel Nistal
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  2. Pilar González-Peramato
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Corresponding author

Correspondence to Manuel Nistal .

Editor information

Editors and Affiliations

  1. NIJMEGEN, The Netherlands

    J.H.J.M. van Krieken

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Nistal, M., González-Peramato, P. (2019). True Agonadism. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_4999-1

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  • DOI: https://doi.org/10.1007/978-3-319-28845-1_4999-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-28845-1

  • Online ISBN: 978-3-319-28845-1

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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