Case report: 17 alpha-hydroxylase/17,20-lyase deficiency: a rare cause of endocrine hypertension

Am J Med Sci. 1996 Sep;312(3):126-9. doi: 10.1097/00000441-199609000-00006.

Abstract

The combination of hypertension, hypokaliemia, and male pseudohermaphroditism or amenorrhea must prompt a search for a rare adrenal enzymatic defect, 17 alpha-hydroxylase/17,20-lyase deficiency. This is a report of the observation of a male patient in whom this rare deficit was diagnosed in adulthood on the basis of lifelong ambiguous external genitalia, hypogonadism, severe hypertension, bilateral adrenal hyperplasia, and biological markers evoking an excess of mineralocorticoids without hyperaldosteronism.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Gland Diseases / etiology*
  • Adrenal Hyperplasia, Congenital / diagnosis*
  • Adrenal Hyperplasia, Congenital / drug therapy
  • Adrenocorticotropic Hormone / therapeutic use
  • Adult
  • Aldehyde-Lyases / deficiency*
  • Cytochrome P-450 Enzyme System / deficiency*
  • Disorders of Sex Development / drug therapy
  • Disorders of Sex Development / etiology*
  • Humans
  • Hypertension / drug therapy
  • Hypertension / etiology*
  • Potassium / blood
  • Steroid 17-alpha-Hydroxylase
  • Steroids / blood

Substances

  • Steroids
  • Adrenocorticotropic Hormone
  • Cytochrome P-450 Enzyme System
  • Steroid 17-alpha-Hydroxylase
  • Aldehyde-Lyases
  • Potassium