COMPLETE TESTICULAR FEMINIZATION SYNDROME ASSOCIATED WITH THERMOLABILE ANDROGEN RECEPTOR
نویسندگان
چکیده
منابع مشابه
Androgen insensitivity syndrome (testicular feminization).
Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or absent pubic hair and axillary hair. These patients have male karyotype (XY) and negative sex chromatin. The gonad (undesce...
متن کاملComplete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation.
We have characterized the molecular defect causing androgen resistance in two 46,XY siblings with complete testicular feminization. Although binding studies in genital skin fibroblasts showed a reduced Bmax, an increased dissociation rate of ligand, and an 8S peak of dihydrotestosterone binding on sucrose density gradient centrifugation, no immunoreactive androgen receptor (AR) was detected in ...
متن کاملComplete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report
Testicular feminization, or the androgen insensitivity syndrome, is a rare disease. Because of various abnormalities of the X chromosome, a male, genetically XY, has some physical characteristics of a woman or a full female phenotype. Indeed the androgen insensitivity syndrome occurs because of a resistance to the actions of the androgen hormones, which in turn switches the development towards ...
متن کاملIncomplete testicular feminization syndrome.
A three and half year old girl presented to us with bilateral symmetrical swellings in the upper part of each labium majus. These were noted by her mother at birth. There was no history of any case of abnormal genitalia or inguinal hernia in her maternal aunts. Neither was there any record of intake of drugs like alcohol, hydantoins or cimetidine by the mother during pregnan On physical examina...
متن کاملTesticular feminization: complete androgen insensitivity syndrome. Discussions based on a case report.
INTRODUCTION AND OBJECTIVES Testicular feminization is the syndrome when a male, genetically XY, because of various abnormalities of the X chromosome, is resistant to the actions of the androgen hormones, which in turn stops the forming of the male genitalia and gives a female phenotype. The androgen insensitivity syndrome occurs in one out of 20,000 births and can be incomplete (various sexual...
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ژورنال
عنوان ژورنال: The Japanese Journal of Urology
سال: 1992
ISSN: 0021-5287,1884-7110
DOI: 10.5980/jpnjurol1989.83.1579