CAJ | 학술논문

目的本研究通过对一例l7β-羟类固醇脱氢酶(1713-HSD)3型缺陷症的临床诊断及基因检测,探讨其病理生理及发病机制.方法总结分析该家系临床资料,通过激素测定和hCG兴奋试验确认其临床诊断;收集该家系先证者及其父母的外周血,通过PCR扩增产物直接测序和亚克隆方法检测其基因突变,确认其基因诊断.结果该患者社会性别为女性,以"原发性闭经"就诊;染色体核型为46,XY,双侧腹股沟隐睾,呈男性假两性畸形.激素测定显示睾酮合成前体物质如硫酸脱氢表雄酮、雄烯二酮明显升高,而睾酮却低于正常.hCG兴奋试验提示雄烯二酮转化为睾酮过程受阻,即17β-HSD3活性缺陷.基因诊断证实HSD17B3 基因第一外显子存在4个碱基缺失(172-175del).结论青春期出现男性化表现伴乳腺发育时应考虑该症可能,hCG试验可提供临床依据,基因诊断可进一步确诊.
목적 본연구통과대일례l7β-간류고순탈경매(1713-HSD)3형결함증적림상진단급기인검측,탐토기병리생리급발병궤제.방법 총결분석해가계림상자료,통과격소측정화hCG흥강시험학인기림상진단;수집해가계선증자급기부모적외주혈,통과PCR확증산물직접측서화아극륭방법검측기기인돌변,학인기기인진단.결과 해환자사회성별위녀성,이"원발성폐경"취진;염색체핵형위46,XY,쌍측복고구은고,정남성가량성기형.격소측정현시고동합성전체물질여류산탈경표웅동、웅희이동명현승고,이고동각저우정상.hCG흥강시험제시웅희이동전화위고동과정수조,즉17β-HSD3활성결함.기인진단증실HSD17B3 기인제일외현자존재4개감기결실(172-175del).결론 청춘기출현남성화표현반유선발육시응고필해증가능,hCG시험가제공림상의거,기인진단가진일보학진.
Objective To investigate the clinical and genetic characteristics in a patient with 17β-hydroxy-steroid dehydrogenase (17β-HSD) 3 deficiency, regarding its pathophysiology and pathogenesis. Methods Clinical features and laboratory data were analyzed in a pedigree of 17β-HSD3 deficiency. Blood samples from the patient and his parents were collected. HSD17B3 gene was screened for mutations by PCR and subclone sequencing. Results The patient presented with pubertal virilization and gynecomastia. The physical examination showed female external genitalia and testes in inguinal canals. The chromosome karyotype was 46, XY. Serum FSH, LH, dehydroepiandrosterone sulfate, androstenedione and 17-OH-progesterone levels were raised, whereas plasma testosterone was lowered. Sequencing analysis revealed 4 nucleotide deletion (172-175del) of HSD17B3 gene. Conclusion Virilization and gynecomastia in puberty suggest the probability of 17β-HSD deficiency. It may be verified clinically by hCG-stimulating test and confirmed by gene diagnosis.