CAJ | 학술논문

目的分析1例21-羟化酶缺陷症伴肾上腺腺瘤及睾丸肾上腺残余肿瘤患者的临床特点及分子遗传学诊断.方法全面收集1例单纯男性化型21-羟化酶缺陷症患者的临床资料,对患者睾丸肿瘤组织进行病理活检,并采用PCR产物直接测序方法明确CYP21基因突变.结果患者为中年男性,因"右侧肾上腺皮质腺瘤术后,左侧肾上腺肿块"入院;激素测定示:ACTH、孕酮、17-羟孕酮、雄烯二酮、睾酮明显高于正常值,CT示右侧肾上腺切除术后、左侧肾上腺弥漫性增生伴多发结节,精液常规未见精子.睾丸活检示:纤维组织增生伴玻璃样变和局灶钙化.基因测序检测到患者CYP21基因第2号内含子纯合突变.结论未经诊治的21-羟化酶缺陷症患者可能伴发肾上腺腺瘤和(或)睾丸肾上腺残余肿瘤.
목적 분석1례21-간화매결함증반신상선선류급고환신상선잔여종류환자적림상특점급분자유전학진단.방법 전면수집1례단순남성화형21-간화매결함증환자적림상자료,대환자고환종류조직진행병리활검,병채용PCR산물직접측서방법명학CYP21기인돌변.결과 환자위중년남성,인"우측신상선피질선류술후,좌측신상선종괴"입원;격소측정시:ACTH、잉동、17-간잉동、웅희이동、고동명현고우정상치,CT시우측신상선절제술후、좌측신상선미만성증생반다발결절,정액상규미견정자.고환활검시:섬유조직증생반파리양변화국조개화.기인측서검측도환자CYP21기인제2호내함자순합돌변.결론 미경진치적21-간화매결함증환자가능반발신상선선류화(혹)고환신상선잔여종류.
Objective To investigate the clinical and genetic characteristics in a male patient with 21hydroxylase deficiency combined with adrenal and testicular tumors.Methods Clinical features and laboratory data were collected from the patient.Testicular biopsy was performed.The CYP21 gene was sequenced for mutations.Results The patient presented left adrenal and testicular enlargements.The laboratory examinations showed that plasma ACTH,androstenedione,testosterone,progesterone,and 17-hydroxyprogesterone were markedly elevated.CT scan revealed that the right adrenal gland being resected and the left adrenal with nodular enlargement.Furthermore,testicular biopsy showed a prominent peritubular fibrosis with increased number of peritubular fibroblasts,tubular hyalinisation,and calcification.Sequencing analysis showed a A>G homozygous mutation at intron 2.Conclusion Patients with untreated 21-hydroxylage deficiency may.have adrenal adenomas and(or)testicular adrenal rest tumor simultaneously.