Autori: Florina Raicu, R. Giuliani, V. Gatta, C. Palka, P. Guanciali Franchi, P. Lelli-Chiesa, S. Tumini, L.Stuppia

Editorial: Asian Journal of Andrology, Jul;10(4), p.687-691, 2008.

Rezumat:

Mutations in the X-linked androgen receptor (AR) gene cause androgen insensitivity syndrome, 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 have various ambiguities of the genitalia. Mild androgen insensitivity 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 and dihydrotestosterone 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.

Cuvinte cheie: noua mutatie, receptorul pentru androgeni, domeniul de legare al ligandului, L790P // new mutation, androgen receptor, ligand binding domain, L790P