A Teenage Girl with Unexpected Pubertal Changes

Clin Chem. 2018 Jun;64(6):892-896. doi: 10.1373/clinchem.2017.277046.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / blood
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / deficiency*
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics
  • Adolescent
  • Child
  • Diagnosis, Differential
  • Disorder of Sex Development, 46,XY / blood
  • Disorder of Sex Development, 46,XY / diagnosis*
  • Disorder of Sex Development, 46,XY / genetics
  • Female
  • Gonadal Dysgenesis, 46,XY / blood
  • Gonadal Dysgenesis, 46,XY / diagnosis*
  • Humans
  • Hypospadias / blood
  • Hypospadias / diagnosis*
  • Hypospadias / genetics
  • Puberty*
  • Steroid Metabolism, Inborn Errors / blood
  • Steroid Metabolism, Inborn Errors / diagnosis*
  • Steroid Metabolism, Inborn Errors / genetics

Substances

  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase

Supplementary concepts

  • 46, XY female
  • Pseudovaginal Perineoscrotal Hypospadias