[2 brothers with hereditary male pseudohermaphroditism (Reifenstein's syndrome)].
Reifenstein's syndrome is a rare hereditary disorder with partial androgen insensitivity. Two brothers are reported in whom the diagnosis not was established until the ages of 10 and 12 years. Each of them had a small phallos, hypospadias, perineal urethra with a bifid scrotum and cryptorchidism. Several surgical procedures have been performed. At present, the older boy is 14 8/12 years of age and in puberty with significant gynecomastia. For clinical and genetic reasons, diagnosis early in childhood is of great significance.
Kibaek
M
M
Paediatrisk afdeling H., Odense Sygehus.
Jacobsen
B B
BB
D000293:Adolescent; D002648:Child; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007621:Karyotyping; D008297:Male; D013577:Syndrome
To brødre med hereditaer mandlig pseudohermafroditisme (Reifenstein's syndrom).