[2 brothers with hereditary male pseudohermaphroditism (Reifenstein's syndrome)]

Ugeskr Laeger. 1991 Nov 4;153(45):3138-9.
[Article in Danish]

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adolescent
  • Child
  • Disorders of Sex Development / diagnosis
  • Disorders of Sex Development / genetics*
  • Disorders of Sex Development / surgery
  • Humans
  • Karyotyping
  • Male
  • Syndrome