Search

Laparoscopy was done in 104 consecutive patients with 106 impalpable testes. Three clinical presentations were identified and the value of laparoscopy in each was analyzed. 1) For unilateral impalpable and contralateral normal testes laparoscopic identification of testicular absence was made in 27% of the cases and intra-abdominal testes were found in 16%. Therefore, laparoscopy was of value in 43% of the cases. 2) For bilateral undescended testes (1 or both impalpable) laparoscopy was diagnostic in 75% of the cases (17% had blind-ending spermatic vessels above the internal ring and 58% had intra-abdominal testes). 3) For patients with previous negative inguinal exploration laparoscopic diagnosis was made in 100%.

The hormonal characteristics of anorchism are elevated basal levels of gonadotropins, especially follicle-stimulating hormone and a low concentration of plasma testosterone that fails to increase after the administration of human chorionic gonadotropin. However, little is known about the dynamics of plasma gonadotropin secretion in infants and children with anorchism. We analyzed plasma gonadotropin concentrations and their responses to luteinizing hormone releasing factor, along with plasma testosterone responses to human chorionic gonadotropin, in 9 children with surgically proved bilateral anorchism. Basal concentrations of gonadotropins, especially plasma follicle-stimulating hormone, are elevated above normal during the first 3 to 4 years of life, decrease gradually to normal prepubertal levels and then increase again after age 9 years. This age-dependent diphasic pattern of gonadotropin secretion is comparable to that described previously in patients with the syndrome of gonadal dysgenesis and it is consistent with steroid-independent central nervous system inhibition of pulsatile luteinizing hormone releasing factor secretion during mid childhood. Moreover, a sex difference in follicle-stimulating hormone and luteinizing hormone values was observed; the mean follicle-stimulating hormone and luteinizing hormone concentrations in anorchid boys less than 3 years old were lower than in patients with Turner's syndrome. We suggest that this sex dichotomy is a consequence, at least in part, of the actions of testosterone derived from the fetal testis on the fetal hypothalamus. Luteinizing hormone releasing factor administration to anorchid male subjects resulted in an age-dependent augmented release of gonadotropin, particularly follicle-stimulating hormone. This study emphasizes that the age of the patient must be considered when interpreting basal gonadotropin levels. We also propose that in mid childhood the luteinizing hormone releasing factor test in conjunction with the human chorionic gonadotropin stimulation test is a more accurate hormonal indicator of patients with congenital anorchism than either the human chorionic gonadotropin test or basal gonadotropin concentrations.

Of more than 500 boys with bilateral cryptorchidism who presented during a 10-year period 28 prepubertal patients less than 11 years old who had no palpable testes after human chorionic gonadotropin therapy were studied to assess the ability of serum gonadotropin levels to identify patients with anorchism. Of the boys 21 had a normal testosterone response to human chorionic gonadotropin therapy and all of them had testes at exploration. The serum luteinizing hormone levels ranged from 2 to 6 mIU per ml., with a mean of 3.7 mIU per ml., and the serum follicle-stimulating hormone levels ranged from 1.6 to 6.2 mIU per ml., with a mean of 3.7 mIU per ml. Seven patients showed no testosterone response to human chorionic gonadotropin and all but 1 underwent exploration, at which time no testes were found. Of these 7 patients 6 had elevated gonadotropin levels that averaged 3 standard deviations above the mean. For comparison, 2 pubertal patients with nonpalpable gonads and 3 castrated prepubertal boys also were studied. From the study we concluded that in boys with nonpalpable gonads 1) abnormally elevated serum gonadotropin levels before puberty are indicative of anorchism, 2) neither exploration nor human chorionic gonadotropin stimulation tests are essential for diagnosis in these select patients, 3) serum gonadotropin levels alone are not sufficient for a definitive diagnosis after puberty and 4) all boys with normal serum gonadotropin levels must undergo exploration regardless of the outcome of a human chorionic gonadotropin stimulation test.

A 20-year-old man was found to have rudimentary testes, microphallus and minimal evidence of sexual maturation, along with low serum testosterone and high serum gonadotropin levels, consistent with the syndrome of rudimentary testes and microphallus. His identical twin brother was unaffected, confirming that this unusual congenital disorder does not have a genetic basis in all cases.

Two cases of purported absence of the testes following extensive surgical exploration are reported. On subsequent investigation both boys were found to have testes. It is recommended that when confronted with a patient with a similar history the operative record should be studied and the original surgeon should be contacted to ascertain that either a testis was removed or bind-ending internal spermatic vessels were found. If proper documentation is not available, further evaluation should be done.