Literature DB >> 3320547

The syndromes of androgen resistance revisited.

G Pérez-Palacios1, B Chávez, J P Méndez, J I McGinley, A Ulloa-Aguirre.   

Abstract

A revisit to the existing complexities of the androgen resistance syndromes within the frame of our current knowledge was undertaken. Recent contributions of these and other laboratories are presented according to the topographic intracellular location of the underlying abnormalities causing these inherited disorders. Thus, the clinical spectrum, inherited pattern and biochemical features of defective androgen action at the pre-receptor, receptor, and post-receptor levels are examined. In addition, the effects of androgens on the development of gender role is discussed, with particular focus on patients with pre-receptor defects. It was concluded that a better understanding of the nature of the altered events in these syndromes has been achieved over recent years, although several important issues still remain unsolved.

Entities:  

Mesh:

Substances:

Year:  1987        PMID: 3320547     DOI: 10.1016/0022-4731(87)90196-8

Source DB:  PubMed          Journal:  J Steroid Biochem        ISSN: 0022-4731            Impact factor:   4.292


  3 in total

1.  Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.

Authors:  H Klocker; F Kaspar; J Eberle; S Uberreiter; C Radmayr; G Bartsch
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

2.  Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.

Authors:  Felipe Vilchis; Evangelina Valdez; Luis Ramos; Rocio García; Rita Gómez; Bertha Chávez
Journal:  J Hum Genet       Date:  2008-03-19       Impact factor: 3.172

3.  Male pseudohermaphroditism due to primary 5 alpha-reductase deficiency: variation in gender identity reversal in seven Mexican patients from five different pedigrees.

Authors:  J P Méndez; A Ulloa-Aguirre; J Imperato-McGinley; A Brugmann; M Delfin; B Chávez; C Shackleton; S Kofman-Alfaro; G Pérez-Palacios
Journal:  J Endocrinol Invest       Date:  1995-03       Impact factor: 4.256

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.