PEDIATRICS Vol. 43 No. 4 April 1969, pp. 578-582
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CHROMOSOME STUDIES IN PATIENTS WITH HYPOSPADIAS

Richard C. Juberg M.D., Ph.D.1, Douglas V. Jewson M.D.1, Mary Belle Taylor B.A.1, and Vicki L. Moore 1

1 Genetics Laboratory, Department of Pediatrics, West Virginia University School of Medicine, Morgantown, West Virginia

Hypospadias in the male has frequently been regarded as a mild form of intersexuality. This concept is based only upon the observation that a male with hypospadias is morphologically more similar to a female than is a male without abnormality of the external genitalia. There has been no demonstration that the presence of feminine cells causes this deviant development. This investigation was designed to see if patients with hypospadias possessed evidence of intersexuality by having cells in their circulating blood which were not consistent with their phenotypic sex. The probability that such cells existed in patients with hypospadias was considered greater as the site of the urethral orifice progressed toward the perineum.

Among the 21 patients ascertained, location of the urethral meatus was glandular in 8 patients, penile in 6, at the penoscrotal junction in 2, scrotal in 2, and perineal in 3. Six patients also possessed abnormalities of the scrotum, testes, or kidneys, and 12 had congenital malformations of other systems.

Chromosomes obtained by leukocyte culture were studied in approximately 30 cells per patient. Neither chromosomal structural abnormalities nor mosaicism was demonstrated in any of the patients. Thus, there appears to be no genetic basis for the assumption that hypospadias in the male represents a form of intersexuality.

Submitted on August 12, 1968
Accepted on December 2, 1968




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Clinical Pediatrics, April 1, 1971; 10(4): 205 - 209.
[Abstract] [PDF]