Complete Androgen Insensitivity Syndrome: A Rare Case of Prenatal Diagnosis

被引：1

作者：

Coelho, Maria Liz ^{[1
]}

Soares, Elisa ^{[1
]}

Freixo, Marilia ^{[1
]}

Brandao, Pedro ^{[1
]}

Marinho, Carla ^{[1
]}

Rocha, Juliana ^{[1
]}

Rodrigues, Graca ^{[1
]}

机构：

[1] Ctr Hosp Tamega Sousa, Dept Gynecol & Obstet, Porto, Portugal

来源：

REVISTA BRASILEIRA DE GINECOLOGIA E OBSTETRICIA | 2021年 / 43卷 / 09期

关键词：

prenatal diagnosis; prenatal genetic counseling; androgen insensitivity syndrome; disorder of sex development; 46; XY; androgen receptor;

D O I：

10.1055/s-0041-1735986

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Resumo

引用

页码：710 / 712

页数：3

共 11 条

[1] Prenatal Diagnosis of Androgen Insensitivity Syndrome [J].

Bianca, S. ;

Cataliotti, A. ;

Bartoloni, G. ;

Torrente, I. ;

Barrano, B. ;

Boemi, G. ;

Lo Presti, M. ;

Indaco, L. ;

Barone, C. ;

Ettore, G. .

FETAL DIAGNOSIS AND THERAPY, 2009, 26 (03) :167-169

[2]

BROWN CJ, 1989, AM J HUM GENET, V44, P264

[3] Discordant Embryonic Aneuploidy Testing and Prenatal Ultrasonography Prompting Androgen Insensitivity Syndrome Diagnosis [J].

Franasiak, Jason M. ;

Yao, Xinxin ;

Ashkinadze, Elena ;

Rosen, Todd ;

Scott, Richard T., Jr. .

OBSTETRICS AND GYNECOLOGY, 2015, 125 (02) :383-386

[4] Non-invasive prenatal determination of fetal sex: translating research into clinical practice [J].

Hill, M. ;

Finning, K. ;

Martin, P. ;

Hogg, J. ;

Meaney, C. ;

Norbury, G. ;

Daniels, G. ;

Chitty, L. S. .

CLINICAL GENETICS, 2011, 80 (01) :68-75

[5] Inherited and de novo androgen receptor gene mutations: Investigation of single-case families [J].

Hiort, O ;

Sinnecker, GHG ;

Holterhus, PM ;

Nitsche, EM ;

Kruse, K .

JOURNAL OF PEDIATRICS, 1998, 132 (06) :939-943

[6] Androgen insensitivity syndrome [J].

Hughes, Ieuan A. ;

Davies, John D. ;

Bunch, Trevor I. ;

Pasterski, Vickie ;

Mastroyannopoulou, Kiki ;

MacDougall, Jane .

LANCET, 2012, 380 (9851) :1419-1428

[7] Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS) [J].

Lanciotti, Lucia ;

Cofini, Marta ;

Leonardi, Alberto ;

Bertozzi, Mirko ;

Penta, Laura ;

Esposito, Susanna .

INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, 2019, 16 (07)

[8] THE SYNDROME OF TESTICULAR FEMINIZATION IN MALE PSEUDOHERMAPHRODITES [J].

MORRIS, JM .

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 1953, 65 (06) :1192-1211

[9] Prenatal diagnosis of a fetus with androgen insensitivity syndrome (AIS) [J].

Yalinkaya, Ahmet ;

Yayla, Murat ;

Erdemoglu, Mahmut .

PRENATAL DIAGNOSIS, 2007, 27 (09) :856-857

[10] Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome [J].

Yoshii, Keisuke ;

Naiki, Yasuhiro ;

Terada, Yumiko ;

Fukami, Maki ;

Horikawa, Reiko .

ENDOCRINE JOURNAL, 2018, 65 (02) :221-225

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