Abstract
5 male patients with a 46, XX karyotype were studied at both the DNA level to check for the presence of Y chromosome sequences and at the hormonal level for FSH,LH and testosterone (T). Patients were A 13 years old, B 151/2 years old, C 16 years old, D 21 years old and E 23 years old. Patients A, D, E had vaginal pouch, bilateral cryptorchism and hypospadia. Gonadal biopsy analysis showed that all 3 patients had testis. Patients B and C had normal genitalia with small testis. The hormonal data are as follows :
Southern blot analysis of the 5 patients using Y specific DNA probe failed to detect Y DNA sequences in patients A, D, E. Y DNA is present in the genome of the others. These data suggest a heterogeneity in the XX male syndrome since we can distinguish two kinds of XX males : those with Y DNA material and those without detectable Y sequences yet displaying abnormalities in their genitalia.
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Seboun, E., Toublanc, J., Leroy, P. et al. DNA ANALYSIS OF XX MALES WITH GENITAL ABNORMALITIES COMPARED TO “CLASSICAL” XX MALES. Pediatr Res 20, 1183 (1986). https://doi.org/10.1203/00006450-198611000-00059
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DOI: https://doi.org/10.1203/00006450-198611000-00059
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