Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development.

Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development. Abstract Text:

Michela Barbaro,Mikael Oscarson,Ingrid Almskog,Hans Hamberg,Anna Wedell,

BACKGROUND: The androgen receptor (AR) is essential for the differentiation of male external and internal genitalia. It is normally present in two forms, a full-length form B and an N-terminal truncated form A with still unknown function. Mutations in the AR gene cause androgen insensitivity syndrome (AIS), which is divided into subgroups according to the degree of undermasculinization. Patients with completely female external genitalia are classified as complete AIS (CAIS). However, a recent study has shown that some CAIS patients have signs of internal male genital differentiation due to missense mutations that show some degree of residual function. OBJECTIVE: We aimed to study the expression of the different forms of the AR in two CAIS patients in relation to the development of male internal genital structures. One patient had a mutation (L7fsX33) that affects only the full-length AR-B form of the AR, whereas the other had a nonsense mutation (Q733X) affecting both isoforms. MEASUREMENTS AND RESULTS: We thoroughly analysed internal genitalia at surgery and by histological examination. No signs of Wolffian duct (WD) development were present in any of the patients. Western blotting of proteins from gonadal and genital skin fibroblasts was performed with AR antibodies directed against different AR epitopes. The N-terminally truncated A form was expressed in normal amounts in the patient with the L7fsX33 mutation while no AR was detected in the other patient. CONCLUSION: The presence of the AR-A form does not seem to be sufficient for WD maintenance and differentiation.

Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development. Publishing Authors By Initials

M Barbaro,M Oscarson,I Almskog,H Hamberg,A Wedell,

For similar embryonic structures: wolffian ducts research abstracts see: embryonic structures: wolffian ducts research

PUBMED ID PMID:

MEDLINE DATE:

Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Clinical endocrinology

VOLUME: 66

Page Numbers: 822-6

Journal Abbreviation: Clin. Endocrinol. (Oxf)

ISSN: 0300-0664

DAY: 4

MONTH: 04

YEAR: 2007

Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 346653

Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development. Keywords Mesh Terms:

KEYWORDS: Wolffian Ducts

MESH TERMS: physiology

Chemical & Substance for Abstract: Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development. Information

Substance Name: Receptors, Androgen

Registry Number: 0

Grant and Affiliation Information for Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development.

AFFILIATION: Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. michela.barbaro@ki.se

Country: England

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Clin Endocrinol (Oxf)

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development Related Publications

• A similarity-based range-frequency model for two-category rating data.
• Attractive males have greater success in sperm competition.
• Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development.
• Do wolbachia-associated incompatibilities promote polyandry?
• Evaluating the RUC.
• Male genotype affects female fitness in a paternally investing species.
• Selfish genetic elements and sexual selection: their impact on male fertility.
• Selfish genetic elements and sexual selection: their impact on male fertility.
• Sperm competition and ejaculate evolution.
• Sperm competition, immunity, selfish genes and cancer.