In:
Hormone Research in Paediatrics, S. Karger AG, Vol. 74, No. 1 ( 2010), p. 72-75
Kurzfassung:
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 µg/l; normal upper limit 36 µg/l) and tetrahydroaldosterone (TH-Aldo: 5,749 µg/l; normal upper limit 36 µg/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.
Materialart:
Online-Ressource
ISSN:
1663-2818
,
1663-2826
Sprache:
Englisch
Verlag:
S. Karger AG
Publikationsdatum:
2010
ZDB Id:
2540224-9
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