一名具有3条Y染色体（48, XYYY）的男性受试者：病例报告。

A male subject with 3 Y chromosomes (48, XYYY): a case report.

作者信息

Hori N, Kato T, Sugimura Y, Tajima K, Tochigi H, Kawamura J

机构信息

Department of Urology, Mie University School of Medicine, Japan.

出版信息

J Urol. 1988 May;139(5):1059-61. doi: 10.1016/s0022-5347(17)42772-8.

DOI:10.1016/s0022-5347(17)42772-8

PMID:3361645

Abstract

We describe a male subject with 3 Y chromosomes who presented with complaints of lack of sexual desire and failure to achieve rigid erection. The patient was tall and had markedly incurved little fingers on both hands as well as small testes. Karyotype was 48, XYYY. The patient's parents had normal karyotypes. Endocrinological profile suggested a primary functional disturbance of the gonads. Testicular biopsy demonstrated atrophic seminiferous tubules without spermatogenesis. To our knowledge this case represents the third instance of a man with an 48, XYYY karyotype without mosaicism.

摘要

我们描述了一名具有3条Y染色体的男性患者，他主诉性欲缺乏和无法实现坚挺勃起。该患者身材高大，双手小指明显向内弯曲，睾丸较小。核型为48, XYYY。患者的父母核型正常。内分泌检查提示性腺存在原发性功能障碍。睾丸活检显示生精小管萎缩，无精子发生。据我们所知，该病例是第三例核型为48, XYYY且无嵌合体的男性患者。