نتایج جستجو برای: androgen insensitivity syndrome

تعداد نتایج: 647111  

Journal: :Journal of obstetrics and gynaecology of India 2012
Rema V Nair S Bhavana

The complete androgen insensitivity syndrome, previously called testicular feminization syndrome, is an X-linked recessive rare disorder. The individual is phenotypically female and genotypically male: a male pseudohermaphrodite. The individuals are reared as girls and the condition is suspected when the individual is evaluated for primary amenorrhea, infertility, or when unilateral/bilateral i...

2016
Sunita M. C. De Sousa Karin S. Kassahn Liam C. McIntyre Chan-Eng Chong Hamish S. Scott David J. Torpy

BACKGROUND The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated. CASE PRESENTATION Herein we describe a 46,XY woman who was first diagnosed with androgen insensitivity syndrome (testicular feminisation) at 18 years; however, this was ...

2013
Vincenzo Mazza Emma Bertucci Silvia Latella Carlotta Cani Pierluca Ceccarelli Lorenzo Iughetti Fulvia Baldinotti Antonio Percesepe

Objectives. To demonstrate the feasibility of the prenatal diagnosis of partial androgen insensitivity syndrome by 3D-4D ultrasound. Methods. To report prenatal diagnosis of partial androgen insensitivity syndrome at 32nd week of gestation by 3D-4D ultrasound in a fetus with a 46XY karyotype, testing negative to the mutation analysis of SRY gene and the 5 α -reductase 2 gene (SRD5A2). Results. ...

Journal: :Archives of sexual behavior 2005
Tom Mazur

This review article answers three questions relevant to the medical management and care of individuals born with complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), or a micropenis: (1) Do any of these individuals reassign themselves from their initial gender assignment? (2) Do more reassign than the ones who do not? (3) Is there evidence of gender d...

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