Willi U, Atares M, Prader A, Zachmann M
University Children's Hospital of Zürich, Switzerland.
Pediatr Radiol. 1991;21(4):284-7. doi: 10.1007/BF02018626.
In a consecutive series of 15 male adolescents and young adults with congenital adrenal hyperplasia (CAH), the size, shape, firmness and echostructure of the testes were assessed. The latter was abnormal in 7 patients under long standing treatment with glucocorticoids (group I). In 8, 5 under and 3 off treatment for several years, ultrasonography (US) was normal (group II). On the basis of the US findings the patients were placed in two groups. In group I, the testes had a heterogeneous ultrasonographic pattern; clinically, most felt hard and irregular, although their volume was normal. Sperm count in 3 patients was 5.0 to 14.4 x 10(6)/ml. Five patients have 21-hydroxylase deficiency that was diagnosed in early infancy and had salt-wasting; two have 11-beta-hydroxylase deficiency that was diagnosed late and had no salt-wasting. In group II, testicular volume, shape, firmness and echostructure were normal. All have 21-hydroxylase deficiency, no history of salt-wasting and were diagnosed late. Sperm counts in 3 patients off treatment were 10.5 to 66.0 x 10(6)/ml. In severe cases with a history of salt loss, TALT with deficient spermiogenesis seems likely despite treatment. In mild cases, TALT is absent and spermiogenesis may be normal even without treatment. US is much more accurate in assessing the testes than palpation.
在连续的15例先天性肾上腺皮质增生症(CAH)男性青少年和青年患者中,对其睾丸的大小、形状、硬度和回声结构进行了评估。在长期接受糖皮质激素治疗的7例患者中(第一组),睾丸回声结构异常。在8例患者中,5例正在接受治疗,3例已停药数年,超声检查(US)结果正常(第二组)。根据超声检查结果将患者分为两组。在第一组中,睾丸超声图像呈不均匀性;临床上,大多数睾丸质地硬且不规则,尽管其体积正常。3例患者的精子计数为5.0至14.4×10⁶/ml。5例患者患有21-羟化酶缺乏症,于婴儿早期确诊且有失盐表现;2例患有11-β-羟化酶缺乏症,确诊较晚且无失盐表现。在第二组中,睾丸体积、形状、硬度和回声结构均正常。所有患者均患有21-羟化酶缺乏症,无失盐病史,确诊较晚。3例停药患者的精子计数为10.5至66.0×10⁶/ml。在有失盐病史的严重病例中,尽管接受了治疗,但仍可能存在睾丸生精功能不全的睾丸萎缩(TALT)。在轻度病例中,不存在TALT,即使未经治疗,生精功能也可能正常。超声检查在评估睾丸方面比触诊准确得多。