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Establishment of Rat Models Mimicking Gender-affirming Hormone Therapies

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[Androgen insensitivity syndrome].

Yvonne Lundberg Giwercman¹, Johan Svensson

¹Molekylärmedicinsk reproduktionsforskning Institutionen för kliniska vetenskaper Lunds Universitet S-20502 Malmö. yvonne.giwercman@med.lu.se

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke

|March 4, 2008

Summary

This summary is machine-generated.

Androgen insensitivity, caused by androgen receptor gene mutations, leads to varied ambiguous genitalia presentations. Diagnosis involves assessing androgen receptor function and genetic analysis for effective management.

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Area of Science:

Endocrinology
Genetics
Developmental Biology

Context:

Androgen insensitivity syndrome (AIS) is a significant cause of disorders of sexual development (DSD).
Mutations in the androgen receptor (AR) gene disrupt male sexual differentiation.
Understanding AR function is crucial for diagnosing and managing DSD.

Purpose:

To review the role of androgens in sexual differentiation.
To describe the structure, function, and genetics of the androgen receptor.
To outline the clinical presentation and diagnostic strategies for androgen insensitivity.

Summary:

Androgen insensitivity results from AR gene mutations, leading to a spectrum of conditions affecting male sexual development.
Diagnosis requires clinical evaluation of AR function and molecular genetic testing.
Management necessitates a multidisciplinary approach for children with disorders of sexual development.

Impact:

Provides a comprehensive overview of androgen insensitivity for clinicians and researchers.
Highlights the importance of genetic analysis in diagnosing disorders of sexual development.
Emphasizes the need for specialized, team-based care for affected individuals.