Hook Effect: A Pitfall Leading to Misdiagnosis of Hypoaldosteronism in an Infant with Pseudohypoaldosteronism

Akın L., Kurtoglu S., Kendirci M., Akın M. A., Hartmann M. F., Wudy S. A.

HORMONE RESEARCH IN PAEDIATRICS, cilt.74, sa.1, ss.72-75, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 74 Sayı: 1
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1159/000281404
  • Dergi Adı: HORMONE RESEARCH IN PAEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.72-75
  • Anahtar Kelimeler: Hook effect, Misdiagnosis, Hypoaldosteronism, 2-SITE IMMUNORADIOMETRIC ASSAY, ALDOSTERONE, BIOSYNTHESIS, PROLACTIN, CYP11B2, TYPE-1, GENE
  • Erciyes Üniversitesi Adresli: Evet

Özet

We report herein the case of a premature infant who presented with failure to thrive, hyponatremia, hyperkalemia and metabolic acidosis. Initial serum hormone profiling suggested isolated hypoaldosteronism (aldosterone: 0.01 pg/ml, normal range: 50-900 pg/ml). A gas chromatography-mass spectrometry spot urinary steroid profile showed grossly elevated levels of 18-hydroxy-tetrahydro-11-dehydrocorticosterone (18-hydroxy-THA: 5,893 mu g/l; normal upper limit 36 mu g/l) and tetrahydroaldosterone (TH-Aldo: 5,749 mu g/l; normal upper limit 36 mu g/l) which are aldosterone precursor metabolite and aldosterone metabolite, respectively. Thus, aldosterone synthase deficiency was excluded and pseudohypoaldosteronism (PHA) was suggested. A repeated test after dilution of the serum revealed a very high level of aldosterone (6,490 pg/ml), confirming the diagnosis of PHA in this case. Copyright (C) 2010 S. Karger AG, Basel