作者
SE Hannema, IS Scott, E Rajpert‐De Meyts, NE Skakkebaek, N Coleman, IA Hughes
发表日期
2006/3
期刊
The Journal of Pathology: A Journal of the Pathological Society of Great Britain and Ireland
卷号
208
期号
4
页码范围
518-527
出版商
John Wiley & Sons, Ltd.
简介
The complete androgen insensitivity syndrome (CAIS), caused by mutations in the androgen receptor (AR) gene, is associated with abnormal testicular development and an increased risk of germ cell malignancy. Previous histological studies in CAIS have selected patients purely on the basis of clinical diagnosis and were mostly based on small numbers, many of whom were post‐pubertal. Here, we present 44 cases of CAIS, each with molecular pathological confirmation of an AR mutation. The median age at gonadectomy was 5.5 years (5.5; IQR 1–13). We have been able, therefore, to investigate testicular development in infancy, childhood and puberty, and estimate the incidence of premalignant change in this series. In addition, we have investigated whether the presence of epididymides and/or vasa deferentia in CAIS, previously shown to be associated with residual activity of mutant ARs, is related to a …
引用总数
20062007200820092010201120122013201420152016201720182019202020212022202320241012161397992116131491912149102
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SE Hannema, IS Scott, E Rajpert‐De Meyts… - The Journal of Pathology: A Journal of the Pathological …, 2006