| Full text | |
| Author(s): |
Batista, Rafael Loch
[1]
;
Frade Costa, Elaine M.
[1]
;
Rodrigues, Andresa de Santi
[1, 2]
;
Gomes, Nathalia Lisboa
[1]
;
Faria, Jr., Jose Antonio
[1]
;
Nishi, Mirian Y.
[1, 2]
;
Prado Arnhold, Ivo Jorge
[1]
;
Domenice, Sorahia
[1]
;
de Mendonca, Berenice Bilharinho
[1, 2]
Total Authors: 9
|
| Affiliation: | [1] Univ Sao Paulo FMUSP, Fac Med, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM42, Hosp Clin, Displin, Sao Paulo, SP - Brazil
[2] Univ Sao Paulo FMUSP, Fac Med, Lab Sequenciamento Larga Escala SELA, Sao Paulo, SP - Brazil
Total Affiliations: 2
|
| Document type: | Journal article |
| Source: | ARCHIVES OF ENDOCRINOLOGY METABOLISM; v. 62, n. 2, p. 227-235, MAR-APR 2018. |
| Web of Science Citations: | 16 |
| Abstract | |
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. (AU) | |
| FAPESP's process: | 13/02162-8 - Molecular pathogenesis and characterization of monogenic developmental diseases: a route to translational medicine |
| Grantee: | Berenice Bilharinho de Mendonça |
| Support Opportunities: | Research Projects - Thematic Grants |