[Partial 3ß-hydroxysteroid dehydrogenase type 2 deficiency: Diagnosis of a novel mutation after positive newborn screening for 21-hydroxylase deficiency]

Med Clin (Barc). 2016 Jan 15;146(2):92-3. doi: 10.1016/j.medcli.2015.04.004. Epub 2015 May 26.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 17-alpha-Hydroxyprogesterone / blood*
  • Abnormalities, Multiple / genetics
  • Adrenal Hyperplasia, Congenital / blood
  • Adrenal Hyperplasia, Congenital / diagnosis*
  • Adrenal Hyperplasia, Congenital / genetics*
  • Adrenocorticotropic Hormone / pharmacology
  • Chorionic Gonadotropin / pharmacology
  • Diagnostic Errors*
  • Disorder of Sex Development, 46,XY / blood
  • Disorder of Sex Development, 46,XY / diagnosis
  • Disorder of Sex Development, 46,XY / genetics*
  • Heterozygote
  • Hormones / blood
  • Humans
  • Infant, Newborn
  • Male
  • Mutation, Missense*
  • Neonatal Screening*
  • Point Mutation*
  • Progesterone Reductase / genetics*
  • Testis / drug effects
  • Testis / metabolism
  • Testosterone / deficiency
  • Testosterone / metabolism

Substances

  • Chorionic Gonadotropin
  • Hormones
  • Testosterone
  • 17-alpha-Hydroxyprogesterone
  • Adrenocorticotropic Hormone
  • 3 beta-hydroxysteroid dehydrogenase type II
  • Progesterone Reductase

Supplementary concepts

  • Adrenal hyperplasia 2
  • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency