原发闭经

罕见的46，X，inv（Xq）伴原发闭经一例

A Case of Rare 46 , X , inv ( Xq ) Concomitant with Primary Amenorrhea

本文总结了3年来101例原发闭经的细胞遗传学研究，46，XX共60例，占59.4%；

This paper presents a cytogenetic study on 101 cases of primary amenorrhea , 60 cases ( 59.4 % ) were 46 , XX ;

方法对37例原发闭经患者进行外周血淋巴细胞染色体G显带分析。

Methods The chromosomal G banded karyotypes of 37 cases with primary amenorrhea were analyzed .

一例原发闭经46，X，psudic（X）（p22.3：：p22.3）

A Case of Primary Amenorrhea with 46 , X , psu dic ( X ) ( p22,3 : : p22.3 )

Turner综合征的典型临床表现有原发闭经、身材矮小、条索状性腺、性幼稚、蹼颈、肘外翻、特殊面容祀其他身体异常。

Turner 's syndrome is the most frequently occurring type of gonadal dysgenesis . Its main manifestations are primary amenorrhea , short stature , streak gonads , sexual infantilism , webbed neck , cubitus valgus , specific facial features and various somatic anomalies .

结果有33例原发闭经患者出现染色体核型异常，1例出现GHRHR基因点突变，且该突变位点在第7个外显子中。

Results Among the 130 cases of primary amenorrhea , 33 had abnormal karyotypes . A point mutation at exon 7 of GHRHR gene was found in one patient .

绍兴地区126例原发闭经患者的细胞遗传学分析

Analysis of cytogenetic examination in patients with 126 cases of primary amenorrhea

对63例原发闭经患者行临床检查和细胞遗传学分析，发现异常核型26例。

Clinical and cytogenetic diagnoses were performed in 63 cases of primary amenorrhea .

前言：目的分析原发闭经患者染色体核型与病因。

Objective : To analyze abnormal chromosome karyotype and pathogenesis of primary amenia .

结果176例患者发现性染色体异常38例，异常检出率为29.6%（38/176），其中原发闭经组33例，异常检出率为40.2%（33/82）；

Results 38 / 176 cases with abnormal karyotype ( 29.6 % ) were found ;

原发闭经的细胞遗传学研究

Cytogenetic study of primary amenorrhea

方法分析61例原发闭经患者外周血淋巴细胞染色体核型。

Methods : To analyze the chromosome karyotypes of circular lymphocytes in 61 patients with primary amenia .

染色体异常疾病主要发生于有不良孕产史、不孕不育、性分化异常、原发闭经及智力低下。

Clinical presentation of diseases include history of abnormal pregnancy , sterility , sexual development abnormity , primary amenorrhea and feeblemindedness .

结果高血压、低血钾及原发闭经，性激素水平低下，无第二性征发育为该病的临床表现，性腺病理结果是发育不良的睾丸。

Results The clinical manifestations of this kind of patients were hypertension , hypokalemia , primary amenorrhea and absent of the secondary sexual characteristics .

方法对234例原发闭经和309例继发闭经患者进行外周血染色体的核型分析。

Method : The routine cytogenetic analysis was performed , including the chromosome G band analysis and karyotype analysis of the cultured peripheral blood lymphocytes .

方法将176例患者分为两组，其中82例原发闭经组，94例继发闭经及月经稀发组。

Methods 176 cases were divided into two groups , 82 women with primary amenorrhea as the first group , 94 women with oligomenorrhea and / or secondary amenorrhea as the second group .

在18岁以下矮身材、原发闭经、自然流产及不孕妇女中的异常频率分别为33.8%、48.1%.10.1%和5.2%。

The incidences of chromosome abnormalities were 33 . 8 % , 48 . 1 % , 10.1 % , and 5 . 2 % 'in shorty , primary amenorrhea , spontaneous abortion and female infertility respectively .

本文报告了应用长效尼尔雌醇和甲地孕酮序贯周期疗法治疗84例闭经患者，其中原发闭经者13例，继发闭经者71例，后者中有47例诊断为高促性腺激素性闭经。

A clinical study was carried out on sequential treatment with long-acting Nylestriol - Megestrol acetate in 84 amenorrhea patients . The patients included 13 cases of primary amenorrhea and 71 cases of secondary amenorrhea , of which 47 cases were hypergonadotropic amenorrhea ( HGA ) .

结果显示：POF组的B细胞数为19.16%，原发性闭经组为21.18%，均显著高于正常组的14.83%。

The B cell in POF group was 19.16 % , significantly higher than 14.83 % in normal group .

原发性闭经患者染色体核型分析及SRY基因检测

Karyotype analysis and detection of SRY gene of primary menopause patients

结果71例原发性闭经患者中检出核型异常者23例；6例SRY阳性。

Results : Among 71 cases of primary menopause abnormal karyotype was detected in 23 cases and SRY positive expression , in 6 cases .

目的分析原发性闭经患者染色体异常核型及Y染色体上的性别决定区（SRY）基因，并对原发性闭经的原因进行探讨。

Aim : To analyze the karyotype and detect the SRY gene of primary menopause patients so as to provide information for exploring the mechanism of primary menopause .

本文报告了14例原发性闭经患者的细胞遗传学分析，其中正常核型（46，XX）者8例，占57.1%；异常核型6例，占42.9%。

In this paper we report a cytogenetic analysis on 14 cases of primary amenorrhea , of which 8 cases ( 57.1 % ) have had normal karyotype 46 , ⅹⅹ, 6 cases ( 42.9 % ) have been found to be of abnormal karyotype .

腹腔镜对原发性闭经和继发性闭经的诊断价值

The Diagnostic Value of Laparoscopy for the primary and Secondary Amenorrhea

原发性闭经12例：染色体核型与临床表现

Karyotyping and Clinical Manifestations of Primary Amenorrhea : Analysis of Twelve Cases

原发性闭经患者外周血染色体和内分泌激素分析

Study on chromosome abnormity and endocrine hormones in patients with primary amenorrhea

原发性闭经患者骨代谢及其骨调节因素水平的观察

Bone metabolism and level of bone regulating hormone in patients with primary amenorrhea

原发性闭经88例临床分析

Clinical analysis of 88 cases of primary amenorrhea

目的：观察原发性闭经患者外周血染色体畸变和内分泌激素水平的关系。

Objective : To investigate chromosome abnormity and endocrine hormones in patients with primary amenorrhea .

其中原发性闭经49例，检出异常核型18例（占36.7%）；

18 of 49 ( 36.7 % ) cases with primary amenorrhea were detected abnormal karyogram ;