Hypertension in a neonate with 11 β-hydroxylase deficiency

M. Mimouni*, H. Kaufman, A. Roitman, Ch Morag, N. Sadan

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

A female newborn infant with ambiguous genitalia was found to have hypertension (121/82 mm Hg) immediately after birth. The plasma testosterone (T) (0.73 nmol/l), Δ4-androstenedione (Δ4-A) (5.9 nmol/l), dehydroepiandrosterone (DHEA) (8.9 nmol/l), as well as 17 OH-hydroxyprogesterone (17 OHP) (152 nmol/l) were elevated. The diagnosis of 11β-hydroxylase deficiency was finally established on the basis of elevated plasma eleven-deoxycortisol (compound S) (>0.6 μmol/l) and confirmed by the normalisation of the blood pressure during hydrocortisone therapy. Our case is probably the youngest patient with 11β-hydroxylase deficiency in whom the hypertension was found at birth.

Original languageEnglish
Pages (from-to)231-233
Number of pages3
JournalEuropean Journal of Pediatrics
Volume143
Issue number3
DOIs
StatePublished - Jan 1985
Externally publishedYes

Keywords

  • 11β-Hydroxylase deficiency
  • Adrenal steroids
  • Ambiguous genitalia
  • Compound S
  • Neonatal hypertension

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