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

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

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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Correspondence to Manuel Nistal .

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Nistal, M., González-Peramato, P. (2020). Disorders of Sexual Development, Complete Androgen Insensitivity Syndrome (CAIS). In: Raspollini, M.R., Lopez-Beltran, A. (eds) Uropathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-41894-6_4805

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  • DOI: https://doi.org/10.1007/978-3-030-41894-6_4805

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-41893-9

  • Online ISBN: 978-3-030-41894-6

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