Abstract
Two boys, now 20 yr old, were seen at birth for ambigous genitalia(hypospadias stade III); only 1 gonad was palpated in an inguinal hernia; karyotypes were 46,XO/XY. At laparotomy, small vagina, uterus; one small testis on one side, a streak and a fallopian tube on the other side. In boy n°2 a gonocytoma was found in the streak. However, because at histology the testis appeared immature but normal, both were kept in the male gender. Streaks and Mullerian structures were removed. Both presented several of the classical somatic abnormalities observed in Turner's syndrome and a very poor growth rate as well. At age 3, plasma testosterone(T) rose only to 415 and 220 ng/dl after hCG test. In both, plastic reconstruction of genitalia was difficult, particularly in boy n°2, with repetitive surgeries until age 10. In boy n°1, the testis progressively vanished, LH/FSH rose, gynecomastia developped, achievement of puberty required substitutive T Rx. At 19 yr, the testicular remnant was removed and 2 prostheses put in scrotum. In boy n°2, T rose to 730 ng/dl at 15 yr at the price of very high LH/FSH levels, but subsequently declined and substitutive T Rx needed at age 18.
In conclusion, the choice of sex, made 20 yr ago at a time when MGD was about first recognized, was a mistake. Tragic results are 1) very short stature (final height 145 and 147 cms); 2) difficult and unsatisfactory reconstructive surgery; 3) a progressive vanishing testis and deficient Leydig and Sertoli cells functions suggesting that the apparently normal testis was also dysgenetic. Supported by INSERM grant (PRC 129047).
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de Peretti, E., David, M. & Forest, M. 103 LONG-TERM FOLLOW UP OF 2 CASES OF MIXED GONADAL DYSGENESIS(MGD): TRAGIC CONSEQUENCES OF REARING IN MALE GENDER. Pediatr Res 19, 620 (1985). https://doi.org/10.1203/00006450-198506000-00123
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DOI: https://doi.org/10.1203/00006450-198506000-00123