当前位置： SCI文献检索 > FERTILITY AND STERILITY期刊下所有文献 > A frame shift mutation in the DNA-binding domain of the androgen receptor gene associated with complete androgen insensitivity, persistent müllerian structures, and germ cell tumors in dysgenetic gonads.

A frame shift mutation in the DNA-binding domain of the androgen receptor gene associated with complete androgen insensitivity, persistent müllerian structures, and germ cell tumors in dysgenetic gonads.

Abstract：

OBJECTIVE:To describe the molecular, cytogenetic, immunohistochemical, and endocrinologic characteristics of a young 46,XY female with persistent müllerian structures and germ cell tumors in dysgenetic gonads. DESIGN:Descriptive case study. SETTING:Mackay Memorial Hospital and National Yang-Ming University, Taipei, Taiwan. PATIENT(S):A 22-year-old 46,XY female with persistent müllerian structures, a low level of serum testosterone, and no apparent adnexal masses. INTERVENTION(S):Laparoscopic removal of the dysgenetic gonads. MAIN OUTCOME MEASURE(S):Detection of an androgen receptor gene mutation by a semiautomated DNA sequencer, of the chromosomal complement by cytogenetic examination, of placental alkaline phosphatase activity by immunohistochemical analysis, and of neoplasms in dysgenetic gonads by histologic studies. RESULT(S):A unilateral gonadoblastoma and a contralateral gonadoblastoma associated with a dysgerminoma were found in the excised gonads. The tumors had a 46,XY complement. Placental alkaline phosphatase was present in the tumor cells. A frameshift mutation in the DNA-binding domain of the androgen receptor gene was detected in the patient's blood and the tumor tissues. A five-nucleotide "AGGAA" deletion at codons 608 and 609 of the androgen receptor gene resulted in a missing arginine and lysine as well as a frameshift that introduced a stop codon 12 amino acid downstream from the mutation. CONCLUSION(S):Molecular genetic analysis of the androgen receptor gene aids in the rapid diagnosis of complete androgen insensitivity irrespective of atypical clinical phenotypes and endocrinologic parameters.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Chen CP,Chen SR,Wang TY,Wang W,Hwu YM

doi

10.1016/s0015-0282(99)00169-7

keywords:

subject

Has Abstract

pub_date

1999-07-01 00:00:00

pages

170-3

issue

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(99)00169-7

journal_volume

pub_type

杂志文章

在线工具

A frame shift mutation in the DNA-binding domain of the androgen receptor gene associated with complete androgen insensitivity, persistent müllerian structures, and germ cell tumors in dysgenetic gonads.