Androgen insensitivity syndrome: a review
Arch. endocrinol. metab. (Online)
; 62(2): 227-235, Mar.-Apr. 2018. tab, graf
Article
in En
| LILACS
| ID: biblio-887640
Responsible library:
BR1.1
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.
Key words
Full text:
1
Index:
LILACS
Main subject:
Androgen-Insensitivity Syndrome
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Arch. endocrinol. metab. (Online)
Journal subject:
ENDOCRINOLOGIA
/
METABOLISMO
Year:
2018
Type:
Article