中华内分泌代谢杂志
中華內分泌代謝雜誌
중화내분비대사잡지
CHINESE JOURNAL OF ENDOCRINOLOGY AND METABOLISM
2010年
5期
377-380
,共4页
乔洁%韩兵%陈霞%刘炳丽%郭郁郁%龚静%陆颖理%吴万龄%宋怀东%陈名道
喬潔%韓兵%陳霞%劉炳麗%郭鬱鬱%龔靜%陸穎理%吳萬齡%宋懷東%陳名道
교길%한병%진하%류병려%곽욱욱%공정%륙영리%오만령%송부동%진명도
黄体生成素/绒毛膜促性腺激素受体%男性假两性畸形%睾丸间质细胞发育不全
黃體生成素/絨毛膜促性腺激素受體%男性假兩性畸形%睪汍間質細胞髮育不全
황체생성소/융모막촉성선격소수체%남성가량성기형%고환간질세포발육불전
Luteinizing hormone/chorionic gonadotropin receptor%Male pseudohermaphroditism%Leydig cell hypoplasia
目的 本研究通过对一中国人的Leydig细胞发育不全(LCH)家系的临床诊断及基因检测,探讨其病理生理特点.方法 总结分析临床资料,通过激素测定以及青春期前后人绒毛膜促性腺激素(hCG)兴奋试验确认其临床诊断;并用PCR产物直接测序的方法检测患者及其家系成员的LH/hCG受体(LHCGR)基因.结果 表现为男性假两性畸形的患者睾酮水平低下,且不能被hCG兴奋,青春期后出现LH水平的显著升高.DNA序列分析发现患者的LHCGR基因有两种新的突变,一等位基因含有第5号外显子T→C的杂合点突变,使受体胞外域的152位的异亮氨酸突变为苏氨酸;另一等位基因存在第6号内含子3'端的剪切位点C突变为A(IVS6-3 C→A).患者无临床表现的同胞妹妹(46,XX)具有和患者相同的基因型.结论 患者LCH由LHCGR基因新的复合杂合突变所致.
目的 本研究通過對一中國人的Leydig細胞髮育不全(LCH)傢繫的臨床診斷及基因檢測,探討其病理生理特點.方法 總結分析臨床資料,通過激素測定以及青春期前後人絨毛膜促性腺激素(hCG)興奮試驗確認其臨床診斷;併用PCR產物直接測序的方法檢測患者及其傢繫成員的LH/hCG受體(LHCGR)基因.結果 錶現為男性假兩性畸形的患者睪酮水平低下,且不能被hCG興奮,青春期後齣現LH水平的顯著升高.DNA序列分析髮現患者的LHCGR基因有兩種新的突變,一等位基因含有第5號外顯子T→C的雜閤點突變,使受體胞外域的152位的異亮氨痠突變為囌氨痠;另一等位基因存在第6號內含子3'耑的剪切位點C突變為A(IVS6-3 C→A).患者無臨床錶現的同胞妹妹(46,XX)具有和患者相同的基因型.結論 患者LCH由LHCGR基因新的複閤雜閤突變所緻.
목적 본연구통과대일중국인적Leydig세포발육불전(LCH)가계적림상진단급기인검측,탐토기병리생리특점.방법 총결분석림상자료,통과격소측정이급청춘기전후인융모막촉성선격소(hCG)흥강시험학인기림상진단;병용PCR산물직접측서적방법검측환자급기가계성원적LH/hCG수체(LHCGR)기인.결과 표현위남성가량성기형적환자고동수평저하,차불능피hCG흥강,청춘기후출현LH수평적현저승고.DNA서렬분석발현환자적LHCGR기인유량충신적돌변,일등위기인함유제5호외현자T→C적잡합점돌변,사수체포외역적152위적이량안산돌변위소안산;령일등위기인존재제6호내함자3'단적전절위점C돌변위A(IVS6-3 C→A).환자무림상표현적동포매매(46,XX)구유화환자상동적기인형.결론 환자LCH유LHCGR기인신적복합잡합돌변소치.
Objective To investigate a Chinese pedigree suffering from Leydig cell hypoplasia ( LCH) based on clinical data and genetic diagnosis. Methods The patient was diagnosed by means of clinical data, hormone profiles, and human chorionic gonadotropin ( hCC) test. The luteinizing hormone/chorionic gonadotropin receptor(LHCGR) gene of the patient and family members was amplified and sequenced. Results The patient presented with male pseudohermaphroditism, low level of testosterone, which did not respond to hCG. Genetic analysis of the LHCGR revealed two novel mutations: a missense mutation located in exon 5, resulting in Ile replaced by Thr in the extracellular domain; and a splice site mutation in the 3' terminal of intron 6( IVS6-3 C→A). Proband's sister (46, XX) who lacked clinical manifestations showed the identical genotype with the patient. Conclusions A mutation in the consensus sequence of 3' splice site, in addition to a missense mutation (Ile 152Thr)in the extracellular ligand-binding domain is the cause of inactivation of the LHCGR gene in patient with Leydig cell hypoplasia.
