Allen T D, Griffin J E
J Urol. 1984 Feb;131(2):310-4. doi: 10.1016/s0022-5347(17)50360-2.
We evaluated 15 boys less than 4 years old with advanced degrees of hypospadias for the presence of an endocrinopathy by a variety of special tests. There were 6 different endocrine-related abnormalities uncovered in 11 patients. One child had been exposed to progesterone given to the mother during the first trimester of pregnancy, 1 had an abnormal karyotype and 1 had an absent gonad on 1 side. One patient with a family history of Reifenstein's syndrome had low receptor numbers and 3 patients exhibited a poor genital response to exogenous testosterone despite normal receptor levels. However, the most striking finding was that of a poor testosterone response to human chorionic gonadotropin injections, which was seen in 7 patients. In several instances this improved with time and even normalized in 2 patients. This experience suggests that hypospadias is a local manifestation of an endocrinopathy rather than a local dysmorphic problem, and that 1 major cause of it may be a delay in maturation of the hypothalamic-pituitary-testicular axis.
我们通过多种特殊检查，对15名年龄小于4岁、患有重度尿道下裂的男孩进行内分泌疾病检查。在11名患者中发现了6种不同的内分泌相关异常。1名儿童在母亲怀孕的头三个月接触过孕酮，1名患者核型异常，1名患者一侧性腺缺如。1名有赖芬斯坦综合征家族史的患者受体数量较低，3名患者尽管受体水平正常，但对外源性睾酮的生殖器反应较差。然而，最显著的发现是7名患者对人绒毛膜促性腺激素注射的睾酮反应较差。在一些情况下，这种情况会随着时间改善，甚至有2名患者恢复正常。这一经验表明，尿道下裂是内分泌疾病的局部表现，而非局部畸形问题，其主要原因之一可能是下丘脑 - 垂体 - 睾丸轴成熟延迟。
