Partial androgen insensitivity syndrome with persistent mullerian remnants. A case report

被引:1
作者
Bermejo-Costa, Francisca [1 ]
Maria Lloreda-Garcia, Jose [1 ]
Maria Donate-Legaz, Jose [2 ]
机构
[1] Hosp Univ Santa Lucia, Unidad Neonatol, Murcia, Spain
[2] Hosp Univ Santa Lucia, Unidad Endocrinol & Nutr Pediat, Murcia, Spain
来源
ENDOCRINOLOGIA Y NUTRICION | 2015年 / 62卷 / 09期
关键词
MANAGEMENT; MUTATIONS;
D O I
10.1016/j.endonu.2015.05.009
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:469 / 471
页数:3
相关论文
共 11 条
[1]   Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development [J].
Audi, L. ;
Fernandez-Cancio, M. ;
Carrascosa, A. ;
Andaluz, P. ;
Toran, N. ;
Piro, C. ;
Vilaro, E. ;
Vicens-Calvet, E. ;
Gussinye, M. ;
Albisu, M. A. ;
Yeste, D. ;
Clemente, M. ;
Hernandez de la Calle, I. ;
Del Campo, M. ;
Vendrell, T. ;
Blanco, A. ;
Martinez-Mora, J. ;
Granada, M. L. ;
Salinas, I. ;
Forn, J. ;
Calaf, J. ;
Angerri, O. ;
Martinez-Sopena, M. J. ;
del Valle, J. ;
Garcia, E. ;
Gracia-Bouthelier, R. ;
Lapunzina, P. ;
Mayayo, E. ;
Labarta, J. I. ;
Lledo, G. ;
Sanchez del Pozo, J. ;
Arroyo, J. ;
Perez-Aytes, A. ;
Beneyto, M. ;
Segura, A. ;
Borras, V. ;
Gabau, E. ;
Caimari, M. ;
Rodriguez, A. ;
Martinez-Aedo, M. J. ;
Carrera, M. ;
Castano, L. ;
Andrade, M. ;
Bermudez de la Vega, J. A. .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2010, 95 (04) :1876-1888
[2]  
Brown J, 2005, J PEDIATR ENDOCR MET, V18, P3
[3]   Complete androgen insensitivity syndrome with persistent mullerian remnants. A case report [J].
Grob, Francisca ;
Varela, Mario ;
Domingo Arce, Jose ;
Martinez, Virginia ;
Garcia Bruce, Hernan .
ENDOCRINOLOGIA Y NUTRICION, 2013, 60 (04) :216-218
[4]   Consensus statement on management of intersex disorders [J].
Lee, Peter A. ;
Houk, Christopher P. ;
Ahmed, S. Faisal ;
Hughes, Ieuan A. .
PEDIATRICS, 2006, 118 (02) :E488-E500
[5]   Androgen insensitivity syndrome [J].
Mendoza, Nicolas ;
Angel Motos, Miguel .
GYNECOLOGICAL ENDOCRINOLOGY, 2013, 29 (01) :1-5
[6]   Case of sisters with complete androgen insensitivity syndrome and discordant Mullerian remnants [J].
Nichols, Jennifer L. ;
Bieber, Eric J. ;
Gell, Jennifer S. .
FERTILITY AND STERILITY, 2009, 91 (03) :932.e15-932.e18
[7]  
Nistal M, 2007, Actas Urol Esp, V31, P1056
[8]   Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH2- and carboxyl-terminal interaction [J].
Quigley, CA ;
Tan, JA ;
He, B ;
Zhou, ZX ;
Mebarki, F ;
Morel, Y ;
Forest, MG ;
Chatelain, P ;
Ritzén, EM ;
French, FS ;
Wilson, EM .
MECHANISMS OF AGEING AND DEVELOPMENT, 2004, 125 (10-11) :683-695
[9]   ANDROGEN RECEPTOR DEFECTS - HISTORICAL, CLINICAL, AND MOLECULAR PERSPECTIVES [J].
QUIGLEY, CA ;
DEBELLIS, A ;
MARSCHKE, KB ;
ELAWADY, MK ;
WILSON, EM ;
FRENCH, FS .
ENDOCRINE REVIEWS, 1995, 16 (03) :271-321
[10]   THE MOLECULAR-BASIS OF STEROID 5-ALPHA-REDUCTASE DEFICIENCY IN A LARGE DOMINICAN KINDRED [J].
THIGPEN, AE ;
DAVIS, DL ;
GAUTIER, T ;
IMPERATOMCGINLEY, J ;
RUSSELL, DW .
NEW ENGLAND JOURNAL OF MEDICINE, 1992, 327 (17) :1216-1219