Abstract
9 patients having testicular tissue with 46, XX karyotype, aged 1 month to 16 years and followed through puberty, were studied. According to their phenotype they were 2 46, XX males with normal male phenotype and 7 with abnormal external genitalia (AG), among whom 4 with hypospadias and 3 with true hermaphroditism (TH). The endocrine data were identical in the three groups: testosterone normal during puberty, then decreased in adulthood, gonadotropin levels being already above the control values at mid-puberty. Biopsies were identical in the 2 subgroups of AG patients up to 5 years: no difference with controls, regardless of the ovarian part of the ovotestis; after 8 years, germ cells disappeared and dysgenesis became obvious. In one patient, the ovarian zone of the gonad appeared only after complete serial cuts of the gonad removed. Southern analysis of Y-DNA sequences displayed the presence of Y-specific material in 46, XX classical males and the lack of the sequence in all patients with AG.
These findings, together with the knowlegde of familial cases of XX males with AG and TH allow to consider that XX males with AC and TH are the alternative expression of the same genetic defect and that a non-Y testis determining factor might be active in these patients in place of the testis determinants usually present on the Y chromosome, or on the X chromosome in XX classical males.
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Toublanc, J., Abbas, N., Toublanc, M. et al. 145 ANALYSIS OF XX MALES AND XX TRUE HEREMAPHRODITES, ARGUMENTS FOR A NON-Y TESTICULAR DETERMINING GENE. Pediatr Res 24, 541 (1988). https://doi.org/10.1203/00006450-198810000-00166
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DOI: https://doi.org/10.1203/00006450-198810000-00166