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Cited by 186

The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.

Androgen insensitivity syndrome: a review

Open access
Batista, Rafael Loch, Costa, Elaine M. Frade, Rodrigues, Andresa de Santi, Gomes, Nathalia Lisboa, Faria, José Antonio, Nishi, Mirian Y., Arnhold, Ivo Jorge Prado, Domenice, Sorahia, Mendonca, Berenice Bilharinho de·2018·Archives of Endocrinology and Metabolism

Abstract

Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype - phenotype correlation in this syndrome. Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Treatment depends on the phenotype and social sex of the individual. Open issues in the management of androgen insensitivity syndromes includes decisions on sex assignment, timing of gonadectomy, fertility, physcological outcomes and genetic counseling.

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Metadata

Authors
Batista, R. L., Costa, E. M. F., Rodrigues, A. D. S., Gomes, N. L., Faria, J. A., Nishi, M. Y., Arnhold, I. J. P., Domenice, S., & Mendonca, B. B. D.
Venue
Archives of Endocrinology and Metabolism
Published
2018-04
Volume
62
Issue
2
Pages
227-235
ISSN
  • 2359-3997 (ISSN-L)
  • 2359-4292
OpenAlex
W2806975196
Cited by
186
References
1
FWCI
5.34
Type
journal article
Language
en
Open access
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CoChat. (2026). Citation check: Androgen insensitivity syndrome: a review. https://app.cochat.ai/papers/10.20945/2359-3997000000031
The paper
Batista, R. L., Costa, E. M. F., Rodrigues, A. D. S., Gomes, N. L., Faria, J. A., Nishi, M. Y., Arnhold, I. J. P., Domenice, S., & Mendonca, B. B. D. (2018). Androgen insensitivity syndrome: a review. Archives of Endocrinology and Metabolism. https://doi.org/10.20945/2359-3997000000031

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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