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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.The derivative X chromosome of the patient lacked q-telomeric sequences.The authors suggested that this was the first report of a Yp/Xq translocation.
The inactivation patterns of androgen receptor (AR; 313700) alleles in XX males were significantly more skewed than in Klinefelter patients and women.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.(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.