Abstract
8 male patients with 46XX caryotype were studied at age 1 mon. to 15 yrs. 3 had normal genitalia, 5 had hypospadias, 4 with cryptorchism. Biopsy performed in 5 showed normal testis before age 8 and testicular dysgenesis at age 8-12 yrs, without any ovarian structure. Follow-up for 5-18 yrs was obtained in 6: puberty was normal up to stages 3-5, with small testes in all, gynecomastia in 4, final height 163 cm, normal mental development in 5 and slight impairment in Hormonal studies: 1) before puberty, (5 patients) plasma FSH and LH (basal and peak after LH-RH) and testosterone (T) were normal; 2) during puberty (n=5) FSH and LH were increased with normal T; 3) 2 adult patients had very high gonadotropins with decreased T, showing that XX testes go to pubertal involution. Chromosomal studies of the 8 patients failed to show any Y material. However DNA, studied in 3 patients by means of DNA probe, showed specific sequences of chromosome Y. One more patient studied by immunological method had HY antigen. These data demonstrate translocation of Y material on another chromosome.
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