True hermaphroditism: Geographical distribution, clinical findings, chromosomes and gonadal histology

Abstract

We reviewed 283 cases of human true hermaphroditism published from 1980 to 1992. Of the 96 cases described in Africa 96.9% showed a 46,XX karyotype. In Europe 40.5% of 74 cases and 21.0% of the patients in North America had chromosomal mosaicism. The 46,XY karyotype is extremely rare (7%) and equally distributed through Asia, Europe and North America. Of 283 cases 87 were of black or black mixed origin with a 46,XX chromosomal constellation. The most common gonad in patients with true hermaphroditism, an ovotestis, was found in 44.4% of 568 gonads. Gonads with testicular tissue were more frequent on the right side of the body, while pure ovarian tissue was more common on the left. Histologically the testicular tissue was described to be immature and only twice was spermatogenesis reported while the ovarian portion often appeared normal. This coincides with 21 pregnancies reported in ten true hermaphrodites while only one true hermaphrodite apparently has fathered a child. Of the patients 4.6% were reported to have gonadal tumours. Position and type of the genital ducts, frequency of clinical findings such as genital abnormalities and gynaecomastia, correlations between assigned sex and karyotype as well as the age at diagnosis are reported.

Ambiguous genitalia: a clinical and chromosomal study

“…The pseudohermophrodism can cause so many social and psychological problem. 6 These cases are referred for chromosomal analysis. Due to ambiguity a male child would have been brought up as a female and vice versa.…”

A rare case report on ovotesticular disorders of sex development (DSD) 46XY variant

“…However, as time passes the ovarian tissue usually becomes functional and the testicular tissue regresses, becoming dysgenetic and showing interstitial fibrosis and lack of spermogonia. 3,4 Besides the presence of ovotestis, ovary and testis may be found separately. 3 Ovarian tissue is most often found on the left side and testicular tissue on the right side.…”

“…3,4 Besides the presence of ovotestis, ovary and testis may be found separately. 3 Ovarian tissue is most often found on the left side and testicular tissue on the right side.…”

Hermafroditismo verdadeiro: experiência com 36 casos

“…Na maior parte do mundo, o HV é uma causa rara de ambigüidade genital, variando de 2 a 10% (2). A incidência varia, sendo mais alta na África do Sul, com 17 casos por 100 milhões de habitantes, correspondendo a quase 50% dos casos de intersexo; poucos casos publicados são originários da Ásia e da América do Sul (3).…”

“…Desde a descrição do primeiro caso por Salen em 1899, pouco mais de 700 casos já foram publicados na literatura médica (2,4). No entanto, é possível que muitos não sejam diagnosticados, particularmente quando a constituição cromossômica é 46,XY, já que em pseudo-hermafroditas masculinos não se realiza sistematicamente o estudo histológico das gônadas (5,6).…”