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Androgen-Insensitivity Syndrome - Research News and Information

Wednesday, January 07, 2009

Definition of 'Androgen-Insensitivity Syndrome'

A familial form of PSEUDOHERMAPHRODITISM transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.

More technical Information...

Complete androgen insensitivity: the role of the surgeon.

18 Aug 2008 PURPOSE: This is a retrospective series of the surgical management of complete androgen insensitivity at a single institution. MATERIALS AND METHODS: The records of 16 patients 4 to 63 years old with complete androgen insensitivity were extracted ... Read more...


Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome.

14 Aug 2008 PURPOSE: Diagnosis and management of the complete androgen insensitivity syndrome have dramatically changed in the last few decades, with earlier diagnosis and the development of molecular biology. Some phenotypic features such as development of ... Read more...


Gynecomastia in prepubertal and pubertal men.

30 Jul 2008 PURPOSE OF REVIEW: Gynecomastia is often benign, but it can be the sign of serious endocrine disease and the source of significant embarrassment and psychological stress. Understanding its pathogenesis is crucial to distinguish a normal ... Read more...

 

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Technical information about 'Androgen-Insensitivity Syndrome'

Definition: A familial form of PSEUDOHERMAPHRODITISM transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.

Descriptor UI: D013734

Alternative terms: Androgen-Insensitivity Syndrome; Androgen Insensitivity Syndrome; Testicular Feminization; Androgen-Insensitivity Syndrome, Complete; Androgen Insensitivity Syndrome, Complete; Reifenstein Syndrome; Androgen-Insensitivity Syndrome, Partial; Androgen Insensitivity Syndrome, Partial; Androgen-Insensitivity Syndromes, Partial; Reifenstein's Syndrome; Reifensteins Syndrome;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; ultrastructure; urine; veterinary; ultrasonography; virology;

Tree Number: C12.706.842.316.627.109; C13.351.875.842.316.627.109; C16.131.939.842.316.627.109; C16.320.322.061; C19.391.775.316.627.500;

History Note: 2002(1968)

Technical Notes: check the tag MALE

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