[Normal male phenotype or hypospadias and female karyotype. XX male syndrome in children and adolescents].
A morphologically normal 46 XX karyotype has been found in 8 patients with male phenotype, either normal (3 cases) or hypospadiac (5 cases) studied at age 1 month to 15 years. Five had cryptorchidism. Pubertal follow-up was obtained in 6 patients and showed that they had hypogonadism with small testes, and a mean adult height of 163 cm. The hormonal investigations gave normal results before puberty, then after the onset of puberty a hypergonadotropic hypogonadism. Testicular biopsy showed alterations from age 8 years. Studies using Y-specific probes in 3 patients have shown the presence of Y genetic material in 2 and absence in 1, thus demonstrating genetic heterogeneity of the XX males.
Naud
C
C
Toublanc
J E
JE
Fellous
M
M
Casanova
M
M
Seboun
E
E
Canlorbe
P
P
Job
J C
JC
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003456:Cryptorchidism / Q000235:genetics; D005500:Follow-Up Studies; D005837:Genitalia, Male / Q000473:pathology*; D006065:Gonadotropins, Pituitary / Q000097:blood; D006801:Humans; D007021:Hypospadias / Q000235:genetics* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011627:Puberty; D012729:Sex Chromosome Aberrations / Q000473:pathology*; D013739:Testosterone / Q000097:blood; D013997:Time Factors; D014960:X Chromosome
D006065:Gonadotropins, Pituitary; D013739:Testosterone
Phénotype masculin normal ou hypospade et caryotype féminin. Le syndrome des mâles XX chez l'enfant et l'adolescent.