一名具有真两性畸形且核型为46,XX/46,XY/47,XXY的表型男性。

A phenotypic male with true hermaphroditism and a 46,XX/46,XY/47,XXY karyotype.

作者信息

Wit J M, Quartero A O, Bax N M, Huber J

出版信息

Clin Genet. 1987 Apr;31(4):243-8. doi: 10.1111/j.1399-0004.1987.tb02802.x.

DOI:10.1111/j.1399-0004.1987.tb02802.x

Abstract

A phenotypic boy presenting with gynaecomastia showed a mixed karyotype of 46,XX/46,XY/47,XXY. The left gonad was normally descended into the scrotum, but proved to be an ovary without any testicular structures. After left gonadectomy, plasma androgen and estrogen levels showed that the right gonad only contained testicular tissue. Seven patients with this form of triple mosaicism have been described but the clinical features are strikingly different among the described cases.

摘要

一名表现为男性乳房发育的表型男孩呈现出46,XX/46,XY/47,XXY的混合核型。左侧性腺正常降入阴囊，但经证实是一个没有任何睾丸结构的卵巢。左侧性腺切除术后，血浆雄激素和雌激素水平显示右侧性腺仅含有睾丸组织。已经描述了7例这种形式的三重嵌合体患者，但在所描述的病例中临床特征显著不同。