期刊
ARCHIVES OF ENDOCRINOLOGY METABOLISM
卷 62, 期 2, 页码 227-235出版社
SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA
DOI: 10.20945/2359-3997000000031
关键词
Androgen insensitivity syndrome; androgen receptor; disorders of sex development; 46,XY DSD
资金
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo [2013/02162-8, 2014/50137-5]
- Nucleo de Estudos e Terapia Celular e Molecular (NETCEM)
- Conselho Nacional de Desenvolvimento Cientifico e Tecnologico [303002/2016-6]
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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