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CONGENITAL BILATERAL ANORCHIA IN CHILDHOOD: A CLINICAL, ENDOCRINE AND THERAPEUTIC EVALUATION OF TWENTY‐ONE CASES
Author(s) -
AYNSLEYGREEN A.,
ZACHMANN M.,
ILLIG R.,
RAMPINI S.,
PRADER A.
Publication year - 1976
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.1976.tb01966.x
Subject(s) - medicine , micropenis , virilization , endocrinology , congenital adrenal hyperplasia , androgen , penis , basal (medicine) , hypospadias , hormone , surgery , insulin
SUMMARY An evaluation of twenty‐one boys, including a discordant pair of identical twins, is presented in whom bilateral anorchia was found with a negative family history and without history of breech presentation or of postnatal testicular trauma, torsion or orchitis. The most likely cause is prenatal testicular torsion. The incidence of the condition in our hospital is 1 in 177 cases of cryptorchidism. Prepubertal growth was normal beofore treatment, and testosterone replacement therapy allowed a normal pjubertal growth spurt and skeletal maturation. Although demonstrable basal urinary tstosterone was found in the subjects with a postpubertal bone age, most patients tested showed no increase after stimulation with human chorionic gonadotrophin. In the presence of a normal penis and scrotum, such findings, together with a high basal FSH and an increased response of plasma LH to LHRH, make surgical exploration unnecessary. In the rare patient who shows a positive but subnormal response of testosterone to HCG, Leydig cells are presumed to be present either ectopically or in rudimentary testes, and further surgical exploration is indicated. Anorchia, or absence of the testes, may be congenital or acquired postnatally through trauma or testicular torsion. Several conditions may mimic congenital anorchia, the most common being virilization of a female fetus as a result of congenital adrenal hyperplasia, meternal androgen ingestion, or by maternal androgen secreting tumours. Congenital anorchia has been said to occur in 1 in 20 000 male subjects (Bobrow & Gough, 1970) but despite this estimated prevalence there have been only eighty or so cases reported in the literature during the last 100 years. We have investigated twenty‐one additional cases, and wish now to report our observations. The reasons for the study are, first, that the number of cases, the largest series reported, allowsa thorough clinical and therapeutic evaluation; second, to report results on the testosterone response to human chorionic gonadotrophin administration and the luteinizing hormone and follicle stimulating hormone