Clinical and Endocrinological Evaluation of Patients with Congenital Microphallus

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Abstract
Patients [8] with congenital microphallus were investigated. Plasma luteinizing hormone [LH], follicle-stimulating hormone [FSH], testosterone [T] and androstenedione levels were obtained in all cases. The response to the administration of human chorionic gonadotropin [HCG], luteinizing hormone-releasing hormone and ACTH, the assessment of testicular histology by EM and the measurement of dihydrotestosterone formation by preputial skin were determined in some patients. The results of these studies were compared to similar studies in 6 normal prepubertal boys, 4 boys with bilateral cryptorchidism, 1 male infant with anorchia and 1 adult with hypogonadotropic hypogonadism. The clinical and endocrinological findings in the 8 patients with microphallus can be divided into 2 distinct categories. In 5 patients the disorder is familial, gonadotropin levels are low and there is a normal response to stimulation with HCG. The data are compatible with the possibility that 3 (possible 5) of the 8 patients with micropallus have hypogonadotropic hypogonadism. In the other group the cases are sporadic, serum LH and FSH levels are elevated and plasma T failed to increase after short-term treatment with HCG. In these patients a primary testicular disorder appears to be responsible. Experimental and clinical evidence suggests that microphallus results from defective testicular function during the 2nd and 3rd trimesters of pregnancy, either as the result of defective gonadotropin secretion or defective androgen synthesis.