Atypical Presentation of Swyer Syndrome.

BACKGROUND: Swyer syndrome is a rare type of disorder of sex development and typically presents with delayed puberty and primary amenorrhea. We describe an unusual presentation of this condition. CASE: A 17-year-old female patient with typical thelarche and adrenarche presented with primary amenorrhea. Pelvic ultrasound showed normally developed uterus and bilateral ovoid hypoechoic structures suggestive of gonads. Laboratory investigations revealed highly elevated gonadotrophins with estradiol level within a range typical for a female of reproductive age and chromosome analysis showed a 46,XY karyotype. Histopathological examination of the gonadectomy specimens revealed gonadoblastoma and dysgerminoma with no functional ovarian or testicular tissue. SUMMARY AND CONCLUSION: This report reminds us the possibility of diagnosis of Swyer syndrome in the presence of normal pubertal development and normal sex steroid levels considered to be produced by gonadoblastoma.

Potter sequence due to renal aplasia and postaxial hexadactyly. A distinct entity?

Report on a prematurely born female with the Potter sequence, postaxial hexadactyly of both hands, and bilateral short metacarpals I. Autopsy findings included severely hypoplastic lungs, bilateral renal aplasia as well as aplasia of the vagina and uterus. Chromosomes were normal (46,XX). Similar--though not identical--observations have been published by Holzgreve et al. (5), by Bonnet et al. (2), and by Legius et al. (6).

The epidemiology of testicular cancer in upstate New York.

In a study of 250 cases of cancer of the testis and of neighborhood- and age-matched controls in upstate New York in 1977-1980, the authors found that risk was enhanced by possession of a number of traits associated with exposure of the testis to heat; occupational exposures to fertilizers, phenols, and fumes or smoke; and trauma to the testis. Risk was also increased for characteristics related to congenital and developmental aberrancies and testis-related abnormalities, e.g., low sperm count, fertility problems, atrophic testis, and cryptorchidism. Several of these risk factors were statistically significant in a multiple regression model that adjusted for all other significant traits, age, and education.