两性畸形

真两性畸形1例报告并文献复习

Report of 1 Case of True Hermaphroditism and the Literature Review

目的：总结13例真两性畸形的诊断要点及治疗体会。

Purpose : To summarize the diagnostic point and therapeutic experience of 13 cases of true hermaphroditism .

46，XX真两性畸形的基因诊断

Genetic Diagnosis of 46 , XX True Hermaphroditism

46，XX真两性畸形的细胞遗传学研究

Cytogenetic Study on 46 ,ⅹⅹ True Hermaphroditism

46，XY真两性畸形基因分析及发病机理初探

Gene analysis in 4 cases of 46 , xy true hermaphroditism and preliminary study of its mechanism

结论：SRY及其相关基因突变在46，XX，SRY阴性真两性畸形的发病机制中发挥了重要作用。

Conclusion : The mutations of SRY gene and SRY-related gene play an important role in the mechanisms of 46 , xx , SRY gene negative true hermaphrodites .

女性假两性畸形：由白细胞的初步分析，认为可能是XO（45）/XY（46）嵌合体。

Female pseudohermaphroditism ( 1 case ) . A preliminary analysis of the patient revealed the possibility of being an XO ( 45 ) / XY ( 46 ) mosaic .

对两组标本采用双抗体夹心酶联免疫吸附试验（ELISA）检测T及MIS值，对所得结果进行统计学分析，探讨SRY基因、T及MIS在男性假两性畸形诊断中的意义及相关性。

Detection of expression of T and MIS by double antibody sandwich enzyme-linked immunosorbent assay ( ELISA ) and analysis the results , discussion for the meaning and relation between SRY , T , MIS and the diagnosis of male pseudohermaphroditism . 3 .

背景与目的：性逆转综合征是一种由于性别决定和分化异常导致的两性畸形，其主要特征是患者的核型与表型相反，分为46，XX男性和46，XY女性两型。

Background and Objective : sex reversal syndrome characterised by discrepancy in karyotype and Phenotype is a hermaphrodism due to abnormity of Sex Determination and differentiation . Sex reversal syndrome is divided into 46 , XX male and 46 , XY female .

药物性女性假两性畸形矫治13例分析

Correction for female pseudohermaphroditism in 13 patients caused by extraneous androgen

XX/XY真两性畸形猪发病机理探讨

Approach on the Pathogenesis of XX / XY True Hermaphroditism in Pig

两性畸形的诊断与治疗&附14例报告

The diagnosis and treatment of hermaphroditism : a report of 14 cases

真两性畸形猪垂体-性腺轴和肾上腺内分泌特征

Endocrine characteristic of true hermaphroditic pigs in pituitary-gonadal axis and adrenal gland

目的总结对真两性畸形的诊断和治疗经验。

ObjectiveTo summarize the experience of diagnosis and treatment of true hermaphroditism .

核型异常的两性畸形山羊2例报告

Chromosomal Abnormalities in Two Cases of Goats with Sexual Deformity

9例真两性畸形的性腺病理特征

Pathological characteristics of gonads in nine patients with true hermaphroditism

医学遗传学的一个重要问题&两性畸形

An important problem in medical genetics & abnormal sexual differentiation

真两性畸形的诊断和治疗（附13例报告）

Diagnosis and treatment of true hermaphroditism ( Report of 13 cases )

本文报告5例女性假两性畸形，系由于肾上腺皮质21羟化酶缺乏致先天性肾上腺皮质增生引起。

Five cases of female pseudohermaphroditism caused by 21-hydroxylase deficiency were reported .

同胞中两人患不完全性男性假两性畸形Ⅱ型的病例报告

A clinical report on the sibling with imcomplete male pseudohermaphroditism

肾上腺皮质21羟化酶缺乏症（附5例女性假两性畸形报告）

Adrenal 21-Hydroxylase Deficiency ( Report of Five Female Pseudohermaphroditism )

还发现2例男性假两性畸形其性染色体正常，但常染色体分别为臂间倒位及13和14号染色体间的易位时，也可以导致性别异常。

The abnormalities in 9,13 and 14 chromosomes resulted in intersex also .

目的评价女性假两性畸形的影像学特点。

Objective To evaluate the imaging features of female pseudohermaphroditism .

56例两性畸形儿的染色体分析

Analysis of chromosome in 56 cases with sex monstrosity

方法回顾性分析9例女性假两性畸形的影像资料。

Methods The imaging findings in9 cases of female pseudohermaphroditism were analyzed retrospectively .

21羟化酶缺乏致女性假两性畸形的治疗效果

Combined treatment of female pseudohermaphroditism caused by 21-hydroxylase deficiency

真两性畸形的临床表现和细胞遗传学分析

Clinical Manifestation and Cytogenetic Analysis of True Hermaphroditism

男性假两性畸形患者异位性腺8例。

Cases of male pseudohermaphroditism with ectopic gland .

结合文献对成人真两性畸形的临床表现、诊断、治疗作简要讨论。

The clinical manifestation , diagnosis and treatment of adult true hermaphroditism were discussed .

尽管如此，两性畸形因其病因复杂，分类混乱，给临床诊治带来了较大的困难。

Nevertheless , because of complex pathogenesis of hermaphroditism , the classification is confused .