Endocrine Studies in Patients With Advanced Hypospadias

Publisher Website
Google Scholar
Abstract
Fifteen boys (< 4 yr old) with advanced degrees of hypospadias were evaluated 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 1st 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. 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. Hypospadias apparently is a local manifestation of an endocrinopathy rather than a local dysmorphic problem. One major cause may be a delay in maturation of the hypothalamic-pituitary-testicular axis.