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European Journal of Pediatrics

, Volume 143, Issue 3, pp 231–233 | Cite as

Hypertension in a neonate with 11 β-hydroxylase deficiency

  • M. Mimouni
  • H. Kaufman
  • A. Roitman
  • Ch. Morag
  • N. Sadan
Case Reports

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.

Key words

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

Abbreviations

T

testosterone

OHCS

11 hydroxycorticosteroids

DOC

deoxycorticosterone

THDOC

tetrahydrodeoxycorticosterone

THS

tetrahydro S

17 OHP

17 OH-hydroxyprogesterone

DHEA

dihydroepiandrosterone

DO

11-deoxycorticosterone

Δ4A

androstenedione

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References

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Copyright information

© Springer-Verlag 1985

Authors and Affiliations

  • M. Mimouni
    • 3
  • H. Kaufman
    • 1
    • 2
  • A. Roitman
    • 1
    • 2
  • Ch. Morag
    • 3
  • N. Sadan
    • 3
  1. 1.Institute of Pediatric and Adolescent Endocrinology Beilinson Medical CenterTel-Aviv University Sackler School of MedicinePetah-TikvaIsrael
  2. 2.Endocrine Laboratory, Beilinson Medical CenterTel-Aviv University Sackler School of MedicinePetah-TikvaIsrael
  3. 3.Unit of Endocrinology, Department of PediatricsMeir HospitalKfar SabaIsrael

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