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Volume 10, Issue 4 (July 2008) 10, 687–691; 10.1111/j.1745-7262.2008.00376.x

Novel mutation in the ligand-binding domain of the androgen receptor gene (1790p) associated with complete androgen insensitivity syndrome

Florina Raicu, Rossella Giuliani, Valentina Gatta, Chiara Palka, Paolo Guanciali Franchi, Pierluigi Lelli-Chiesa, Stefano Tumini and Liborio Stuppia

1.Department of Clinical Sciences and Imaging, G. d'Annunzio University Foundation, Chieti-Pescara 66013, Italy
2.Department of Biomedical Sciences, G. d'Annunzio University Foundation, Chieti-Pescara 66013, Italy
3.Aging Research Center, G. d'Annunzio University Foundation, Chieti-Pescara 66013, Italy
4.Division of Pediatric Surgery, G. d'Annunzio University Foundation, Chieti-Pescara 66013, Italy
5.Department of Pediatrics and Gynecology, G. d'Annunzio University Foundation, Chieti-Pescara 66013, Italy
6.Institute of Molecular Genetics, National Research Council, IGM-CNR, Bologna 40100, Italy
7.Carol Davila University of Medicine and Pharmacy, Bucharest 020027, Romania

Correspondence: Dr Liborio Stuppia, G. DAnnunzio University Foundation, Via dei Vestini 35, Chieti 66013, Italy. Fax: +39-0871-3554-133. E-mail: stuppia@unich.it

Received 20 June 2007; Accepted 10 November 2007.


Mutations in the X-linked androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity (CAIS) produces a female external phenotype, whereas cases with partial androgen insensitivity (PAIS) have various ambiguities of the genitalia. Mild androgen insensitivity (MAIS) is characterized by undermasculinization and gynecomastia. Here we describe a 2-month-old 46,XY female patient, with all of the characteristics of CAIS. Defects in testosterone (T) and dihydrotestosterone (DHT) synthesis were excluded. Sequencing of the AR gene showed the presence in exon 6 of a T to C transition in the second base of codon 790, nucleotide position 2369, causing a novel missense Leu790Pro mutation in the ligand-binding domain of the AR protein. The identification of a novel AR mutation in a girl with CAIS provides significant information due to the importance of missense mutations in the ligand-binding domain of the AR, which are able to induce functional abnormalities in the androgen binding capability, stabilization of active conformation, or interaction with coactivators.

Keywords: androgen receptor, novel androgen receptor gene mutation, complete androgen insensitivity syndrome

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