engleski

ISOLATED CLITORIAL ENLARGEMENT DUE TO TRUE HERMAPHRODITISM

True hermaphroditism represents a heterogeneous condition in terms of its phenotypic presentation and genetic background. There is a wide spectrum ranging from frankly male to frankly female external genitalia, however, with a predominance of ambiguity. The most frequently observed cerotype is 46, XX, followed by various types of chromosome mosaicism, whereas the rarest one is 46, XY. Simultaneous presence of testicular and ovarian tissue either in separate gonads or in one named ovotestis is required for the diagnosis. In neonatal period our patient was noted to have isolated clitorimegaly (15 mm) with otherwise normal female external genitalia and no palpable gonads either in labia or in inguinal areas. The levels of electrolytes, 17-hydroxyprogesterone (17 OH P), androstendione and renin were within the reference values. Baseline plasma level of testosterone was elevated as well as its response in the human chorionic gonadotropin (hCG) stimulation test. The presence of uterus was discovered by imaging techniques but gonadal localization was not possible. Karyotype was 46, WY. According to clinical and laboratory findings, the diagnosis of 46, XY partial gonadal dysgenesis was made. During surgery, reduction of clitoris was performed while laparotomy revealed a right ovotestis (confirmed by histology), which was removed. The left gonad was not identified and biopsy of suspected tissue revealed fallopian tube. Considering obvious female appearance of external genitalia and its potential function, it was suggested that the baby should be reared as a girl. As there is no clinical, laboratory or imaging finding which could differ true hermaphroditism from some other types of intersex, definitive diagnosis depends on gonadal histology.

Hermaphroditism-diagnosis; Hermaphroditism-surgery; Gonadal dysgenesis; Gender identity; Karyotyping; Sex differentiation disorders-surgery; Case report

nije evidentirano