A 46XX disorder of sex development with a prostate gland and increased level of prostate-specific antigen

J Natl Med Assoc. 2008 Feb;100(2):256-8. doi: 10.1016/s0027-9684(15)31214-1.

Abstract

A 5-year-old child with precocious puberty and complete masculinization of the genitalia was diagnosed to have 21-hydroxylase deficiency. The patient was also found to have a prostate gland and increased prostate-specific antigen. The presence of a prostate and its relation to prostate-specific antigen and prostate adenocarcinoma are discussed in the light of the relevant literature.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Hyperplasia, Congenital / diagnosis*
  • Adrenal Hyperplasia, Congenital / genetics
  • Adrenal Hyperplasia, Congenital / physiopathology
  • Child, Preschool
  • Disorders of Sex Development / diagnosis*
  • Disorders of Sex Development / genetics
  • Disorders of Sex Development / physiopathology
  • Female
  • Humans
  • Male
  • Prostate / abnormalities*
  • Prostate / physiopathology
  • Prostate-Specific Antigen*
  • Puberty, Precocious*
  • Sexual Development*

Substances

  • Prostate-Specific Antigen