| Abstrakt: |
The frequency of TH as cause of ambiguous genitalia (AG), as well as the cytogenetic features and gonadal histology, depend on the population studied. Among 126 cases of AG seen at the GIEDDS during the past 5 years, 10 exhibited TH (7.9%). The mean age was 78 months (range 2 to 239 months). Nine patients were assigned as males, probably due to a high degree of virilization of the external genitalia (phallus with mean length of 3 cm, 6 cases with complete labioscrotal fold fusion, and 8 with at least one palpable gonad). There was no consanguinity, and in 2 instances there were familial cases of AG. The karyotype was 46, XY in 4 cases, 46, XX in ?, 46, XX/46, XY in 2, 45, X, + mar. in 1, and 45, X/47, XYY in 1. Concerning the internal genitalia, in 9 cases there were Fallopian tubes, uterus in 8, and vas deferens in 4. The histological study of the 20 gonads (gonadectomy in 15) demonstrated 8 testes (T), 6 ovaries, 4 ovotestes (OT). Gonads were not found in 2 (GNF), but there was evidence of previous testicular function (mullerian regression and wolffian development). One 7 year old case (46, XY) exhibited bilateral gonadoblastomas. In 60 % of cases there was bilateral TH and the remainder were unilateral, 2 with OT + T and 2 with OT + GNF. The social sex was changed (male to female) in 4 patients. These results are quite different compared to other regions of the world, such as South Africa, Japan and Europe. |
