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Table of Contents
Vol. 61, No. 2, 2004
Issue release date: March 2004
Section title: Original Paper
Horm Res 2004;61:58–62
(DOI:10.1159/000075240)

A Novel Mutation in the D-Box of the Androgen Receptor Gene (S597R) in Two Unrelated Individuals Is Associated with both Normal Phenotype and Severe PAIS

Giwercman Y.L. · Ivarsson S.A. · Richthoff J. · Lundin K. · Giwercman A.
Departments of aUrology and bPaediatrics, Malmö University Hospital, Lund University, Malmö, Sweden

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 4/30/2003
Accepted: 9/10/2003
Published online: 3/2/2004

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 0

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP

Abstract

Background: An absent or dysfunctional androgen receptor (AR) in 46,XY individuals is the most common cause of various degrees of undermasculinization. Therefore, we routinely perform sequencing of the AR gene in all cases with suspected androgen insensitivity. Methods: In a newborn 46,XY male diagnosed with partial androgen insensitivity syndrome and a phenotypically normal man, who in childhood had bilateral cryptorchidism, the AR was directly sequenced. Seven additional men with cryptorchidism in infancy were chosen as controls. Results: An AR variant (S597R) was identified in both males. Treatment of the newborn with 1% dihydrotestosterone ointment locally, resulted in normal penile size for age. Sequencing of the region in 7 other men with cryptorchidism in infancy did not reveal any additional deviation from the normal reference sequence. Conclusion: The same mutation at this codon can cause significantly different phenotypes as shown by the variation in masculinization of these individuals, with 1 severely affected child and 1 normally developed man. However, the S597R mutation does not seem to be a common cause of undescended testes in boys. Despite the S597R mutation and severe undermasculinization, as seen in the baby, normal male phenotype for age could be achieved with treatment.


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 4/30/2003
Accepted: 9/10/2003
Published online: 3/2/2004

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 0

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP


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