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[2 brothers with hereditary male pseudohermaphroditism (Reifenstein's syndrome)]
1Paediatrisk afdeling H., Odense Sygehus.
Ugeskrift for Laeger
|November 4, 1991
Abstract:
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.