open access

Vol 64, No 5 (2013)
Case report
Published online: 2013-11-01
Submitted: 2013-11-04
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A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome

Zofia Helszer, Anita Dmochowska, Edyta Borkowska, Hanna Moczulska, Jolanta Słowikowska-Hilczer, Michał Pietrusiński, Sławomir Jędrzejczyk, Bogdan Kałużewski
DOI: 10.5603/EP.2013.0023
·
Endokrynologia Polska 2013;64(5):398-402.

open access

Vol 64, No 5 (2013)
Case report
Published online: 2013-11-01
Submitted: 2013-11-04

Abstract

Introduction: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD), and
are associated with a variety of phenotypes ranging from phenotypic women (Complete Androgen Insensitivity Syndrome or CAIS)
to milder degrees of undervirilisation (Partial Androgen Insensitivity Syndrome or PAIS) or men with infertility only (Mild Androgen
Insensitivity Syndrome or MAIS).
In this paper, we present the results of clinical, endocrine and molecular trials in a patient hospitalised because of primary amenorrhoea
with typical phenotype of CAIS.

Material and methods: The main objective of this study was to determine the molecular cause of androgen insensitivity syndrome in
a 46,XY female patient. Molecular analysis of the AR gene was conducted using MSSCP (Multitemperature Single Strand Conformation
Polymorphism) and sequencing methods.

Results: MSSCP analysis showed changes in electrophoretic mobility in exon 8 of the AR gene. Sequencing analysis revealed a missense
mutation which has not been previously described. This is a c.T3816 > C transition mutation which causes a S901P substitution in the
amino acid chain (based on the latest NCBI reference sequence NM 000044.2).

Conclusions: The identified c.T3816 > C mutation in AR gene provides further evidence for the correlation between specific AR mutations
and phenotype corresponding to androgen insensitivity.

(Endokrynol Pol 2013; 64 (5): 398–402)

Abstract

Introduction: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD), and
are associated with a variety of phenotypes ranging from phenotypic women (Complete Androgen Insensitivity Syndrome or CAIS)
to milder degrees of undervirilisation (Partial Androgen Insensitivity Syndrome or PAIS) or men with infertility only (Mild Androgen
Insensitivity Syndrome or MAIS).
In this paper, we present the results of clinical, endocrine and molecular trials in a patient hospitalised because of primary amenorrhoea
with typical phenotype of CAIS.

Material and methods: The main objective of this study was to determine the molecular cause of androgen insensitivity syndrome in
a 46,XY female patient. Molecular analysis of the AR gene was conducted using MSSCP (Multitemperature Single Strand Conformation
Polymorphism) and sequencing methods.

Results: MSSCP analysis showed changes in electrophoretic mobility in exon 8 of the AR gene. Sequencing analysis revealed a missense
mutation which has not been previously described. This is a c.T3816 > C transition mutation which causes a S901P substitution in the
amino acid chain (based on the latest NCBI reference sequence NM 000044.2).

Conclusions: The identified c.T3816 > C mutation in AR gene provides further evidence for the correlation between specific AR mutations
and phenotype corresponding to androgen insensitivity.

(Endokrynol Pol 2013; 64 (5): 398–402)

Get Citation

Keywords

disorders of sex development (DSD); androgen insensitivity syndrome (AIS); androgen receptor; missense mutation

About this article
Title

A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome

Journal

Endokrynologia Polska

Issue

Vol 64, No 5 (2013)

Pages

398-402

Published online

2013-11-01

DOI

10.5603/EP.2013.0023

Bibliographic record

Endokrynologia Polska 2013;64(5):398-402.

Keywords

disorders of sex development (DSD)
androgen insensitivity syndrome (AIS)
androgen receptor
missense mutation

Authors

Zofia Helszer
Anita Dmochowska
Edyta Borkowska
Hanna Moczulska
Jolanta Słowikowska-Hilczer
Michał Pietrusiński
Sławomir Jędrzejczyk
Bogdan Kałużewski

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