迟发型先天性肾上腺皮质增生合并睾丸结节分析(附7例报告)

目的提高对迟发型先天性肾上腺皮质增生(CAH)合并睾丸结节的认识和早期诊治水平。方法对我院近10余年诊断的7例迟发型CAH合并睾丸结节患者的临床资料进行分析。结果7例男性患者平均年龄(21.4±5.3)岁,血促肾上腺皮质激素(ACTH)(17.2±2.5)pmol/L,17-羟孕酮(17-OHP)(1.9±0.4)pmol/L,24 h尿游离皮质醇(UFC)(25.0±9.0)nmol/24 h。其中有5例患者先诊断为迟发型CAH,行双侧睾丸B超检查发现双侧睾丸结节,1例因为疑诊Leydig细胞肿瘤行单侧睾丸切除,病理证实良性睾丸结节,另1例在B超下穿刺病理确诊。B超检查示双侧结节为6例而且均为多个结节,仅有1例为单侧结节。结节均为圆形或椭圆形,质地中等,仅有1例患者有压痛。共有3例患者治疗前进行精液常规检查,均表现为无精子症,经过足量糖皮质激素替代治疗12个月后,1例患者精液检查示精子总数达80×109/L,另2例患者无明显改善,但其睾丸结节缩小。结论迟发型CAH患者中,在高水平ACTH持续刺激下导致睾丸结节,但经过足量糖皮质激素替代治疗可使生精功能恢复正常,睾丸结节缩小甚至消退。在肾上腺性征综合征患者中睾丸结节往往被误认为肿瘤,甚至有患者行双侧睾丸切除术,因此要求临床医生增加对该病的认识,以免误诊误治。

Seven cases of late-onset congenital adrenal hyperplasia combined with testis tubercle

Objective: To improve the knowledge and early diagnosis of late-onset congenital adrenal hyperplasia (CAH,CYP21D) combined testis tubercle.Method: The clinical data of 7 cases of late-onset CAH combined with testis tubercle were analyzed. The CAH cases were diagnosed by PUMC hospital in recent 10 years.Results: Seven patients got involved in this study. Their average age was (21.4±5.3) years. The serum ACTH, 17-OHP and 24 h UFC levels were (17.2±2.5) pmol/L, (1.9±0.4) nmol/L and (25.0±9.0) nmol/24 h, respectively. 5 cases were diagnosed as CAH and later testis ultrasound found the bilateral testis tubercles. One case was suspected of having Leydig cell tumor and received unilateral testis excision. The pathological result proved the benign testis tubercle. Another case received ultrasound-guided testis puncture and was confirmed by pathological test. Ultrasound showed that 6 cases were with multi-bilateral tubercles and only 1 case with unilateral tubercle. The tubercles were round or sphere round, with moderate hardness. Only 1 case had tenderness and all of them were azoospermia. After 12 months' sufficient steroid treatment, the total amount of sperm of 1 case was 80×10~9/L, and the other 2 cases did not change much in sperm analysis result but the diameter of testis tubercles was remarkably reduced.Conclusion: High level of ACTH can induce testis tubercles in late-onset CAH cases. After sufficient steroid treatment, the total amount of sperm may resume normal and the tubercles may shrink or even (disappear.) Since many cases of adrenogenital syndrome were supposed to be tumor and therefore received bilateral testis excision, the clinicians should renew their knowledge of this kind of disease to avoid misdiagnosis.