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Disorders of Sexual Development, Complete Androgen Insensitivity Syndrome (CAIS)

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

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

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Synonyms

Morris’s syndrome; Testicular feminization syndrome

Definition

Patients with complete absence of target organ response to androgens (CAIS) are girls or women with a completely female phenotype and male genotype (presence of Y chromosome and testicular development) (Morris 1953).

Clinical Features

The complete absence of androgen receptors in the target organs leads to differentiation of female phenotype during fetal life. And only when in the treatment of an inguinal hernia, a testicle is observed or a karyotype is done, for this or other reasons, diagnosis can be made before puberty (Batista et al. 2018). At puberty, the most common reason for consultation is amenorrhea. Patients with CAIS have female external genitalia, but the vagina is rudimentary and they lack uterus and as a consequence they lack menstruation. Breast development is produced by the conversion of androgens, of testicular origin, into estrogens by the normal functioning of the P450 aromatase enzyme. These...

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References and Further Reading

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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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Correspondence to Manuel Nistal .

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Editors and Affiliations

  1. NIJMEGEN, The Netherlands

    J.H.J.M. van Krieken

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Nistal, M., González-Peramato, P. (2019). Disorders of Sexual Development, Complete Androgen Insensitivity Syndrome (CAIS). In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_4805-1

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  • DOI: https://doi.org/10.1007/978-3-319-28845-1_4805-1

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  • Print ISBN: 978-3-319-28845-1

  • Online ISBN: 978-3-319-28845-1

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