Two Males With Female Chromosomes

Two XX males diagnosed in childhood. Endocrine, renal, and laboratory findings.

“…Intravenous pyelograms were normal in 10 out of the 11 previously reported patients (de la Chapelle et al, 1964Chapelle et al, , 1965Chapelle et al, , 1971Lindsten et al, 1966;von Mulert et al, 1966;de Grouchy et al, 1967;Berger et al, 1970), the exception being a 24-yearold XX male with uraemia due to an atrophic right kidney (Powers et al, 1970). Pyelograms in both our cases showed a unilateral duplex pelvicalyceal system with a single ureter in Case 1.…”

“…Since the original clinical description of an XX male (de la Chapelle et al, 1964) other case reports (Therkelsen, 1964;Brown et al, 1964;Bergstrand and Lindsten, 1965;de la Chapelle et al, 1965Strauch et al, 1965;Lindsten et al, 1966;von Mulert, Schroter, and Wolf, 1966;de Grouchy et al, 1967;Zuppinger et al, 1967;Boczkowski et al, 1969;Fr0oand, 1969;Luciani et al, 1969;Mori, Mizutani, and Sonoda, 1969;Sebaoun et al, 1969;Berger et al, 1970;Bergman, Nowakowski, and Reitalu, 1970;George and Polani, 1970;Neuwirth and Raboch, 1970;Powers et al, 1970;Received 12 May 1975. *Present address: The Hospital for Sick Children, Great Ormond Street, London WC1N 3JH. Caspersson et al, 1971;Sutherland, Wiener, pnd Bartholomew, 1972;Madan and Walker, 1974) and one review have followed (de la Chapelle, 1972).…”

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“…Anomalies of sex chromosomes.-The testicular feminization syndrome (female external genitalia with XY karyotype) has its counterpart in sev eral patients with male phenotype and XX karyotype (56,193). German & Vesell (112) reported an unusual set of monozygotic twins, both of whom had testicular feminization and an XXY karyotype.…”