RT Journal Article
T1 Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
A1 Audi, L
A1 Fernández-Cancio, M
A1 Carrascosa, A
A1 Andaluz, P
A1 Torán, N
A1 Piró, C
A1 Vilaró, E
A1 Vicens-Calvet, E
A1 Gussinyé, M
A1 Albisu, M A
A1 Yeste, D
A1 Clemente, M
A1 Hernández de la Calle, I
A1 Campo, M Del
A1 Vendrell, T
A1 Blanco, A
A1 Martínez-Mora, J
A1 Granada, M L
A1 Salinas, I
A1 Forn, J
A1 Calaf, J
A1 Angerri, O
A1 Martínez-Sopena, M J
A1 Valle, J Del
A1 García, E
A1 Gracia-Bouthelier, R
A1 Lapunzina, P
A1 Mayayo, E
A1 Labarta, J I
A1 Lledó, G
A1 Sánchez Del Pozo, J
A1 Arroyo, J
A1 Pérez-Aytes, A
A1 Beneyto, M
A1 Segura, A
A1 Borrás, V
A1 Gabau, E
A1 Caimarí, M
A1 Rodríguez, A
A1 Martínez-Aedo, M J
A1 Carrera, M
A1 Castaño, L
A1 Andrade, M
A1 Bermúdez de la Vega, J A
K1 3-oxo-5-alfa-esteroide 4-deshidrogenasa
K1 Exonas
K1 Disgenesia gonadal 46XY
K1 Heterocigoto
K1 Intrones
K1 Mutación
K1 Receptores de andrógenos
K1 Reacción en cadena de la polimerasa por transcriptasa inversa
AB BACKGROUNDAndrogen 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 (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS).OBJECTIVEThe aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46,XY DSD in a series of Spanish patients.SETTINGWe studied a series of 133 index patients with 46,XY DSD in whom gonads were differentiated as testes, with phenotypes including varying degrees of undervirilization, and in whom the AR gene was the first candidate for a molecular analysis.METHODSThe AR gene was sequenced (exons 1 to 8 with intronic flanking regions) in all patients and in family members of 61% of AR-mutated gene patients.RESULTSAR gene mutations were found in 59 individuals (44.4% of index patients), of whom 46 (78%) were CAIS and 13 (22%) PAIS. Fifty-seven different mutations were found: 21.0% located in exon 1, 15.8% in exons 2 and 3, 57.9% in exons 4-8, and 5.3% intronic. Twenty-three mutations (40.4%) had been previously described and 34 (59.6%) were novel.CONCLUSIONSAR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.
PB Endocrine Society
SN 0021-972X
YR 2010
FD 2010-04
LK http://hdl.handle.net/10668/1323
UL http://hdl.handle.net/10668/1323
LA en
NO Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, et al. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. J. Clin. Endocrinol. Metab. 2010                         ; 95(4):1876-88
NO Journal Article; Research Support, Non-U.S. Gov't;
DS RISalud
RD Apr 3, 2025