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Van Niekerk and Retief (1981) found that the ovotestis was the most common gonad of the true hermaphrodite, found in 44.3% of 406 cases.The genotype of most affected individuals was 46, XX, but many had 46, XY (see 400044) or a mosaic of 46, XX/46, XY. The proband had a male phenotype and gender role, bilateral scrotal ovotestes with palpable nodules, and absence of mullerian structures.(1987) were able to separate the genetic loci for the H-Y antigen (426000) and for testis-determining factor (TDF), or SRY.H-Y antigen maps to the centromeric region or the proximal part of the long arm of the Y chromosome, whereas SRY maps more distally on the short arm of the Y chromosome. (2004) reported a 12-year-old phenotypic male who was evaluated for ambiguous genitalia, small phallus, labioscrotal folds, and a urogenital sinus. Exploratory surgery demonstrated a right fallopian tube, hypoplastic uterus, a left ovary, and a right ovotestis.They suggested that X polysomy may also be involved in gonadal development.The mechanism of masculinization in occasional persons with an apparently normal female chromosome complement (and a Klinefelter phenotype) had been thought to be due to reciprocal X-Y interchange at paternal meiosis (4161595] [Full Text]" pmid="4161595"Inoue et al.

No SRY was detected in DNA from peripheral blood leukocytes, but SRY was found in tissue from the ovotestis, indicating mosaicism. (2000) studied a 46, XX true hermaphrodite and found that Yp-specific sequences, including the SRY gene, had been transferred to the long arm of one of the X chromosomes at the Xq28 level.

Conventional karyotype showed 46, XX, but DNA from peripheral blood leukocytes and ovotestis demonstrated a second cell line with presence of Ycen and Yqh and absence of all Yp sequences (del Yp). Further analysis showed that most of the cells were 46, XX, but some cells were XX,del Yp.

In addition, there were 45, X and 47, XXX cell lines. (2004) concluded that the different cell lines in this patient derived from early embryogenesis and that the phenotype could not be attributed to the SRY gene.

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