Summary
Urinary excretion of total 16α-hydroxypregnenolone (16α-OH-P'O), pregnanetriol (PT), and 11-oxopregnanetriol (11-O-PT) were determined by capillary gas chromatography in 32 healthy neonates and three newborn infants with congenital adrenal hyperplasia (CAH) during the first 4 weeks of life. In the 2nd and 3rd week of life, only the 16α-OH-P'O excretion was pathognomonically elevated in infants with 21-hydroxylase deficiency. The values amounted to 1023, 1611 (age 1–2 weeks), and 2955 µg/day (3 weeks of life) compared to much lower levels in healthy peers (2nd week: mean 243, range 0–520 µg/day; 3rd week: mean 515, range 66–1541 µg/day).
Zusammenfassung
Die Ausscheidung von Gesamt-16α-Hydroxypregnenolon (16α-OH-P'O), Pregnantriol (PT) and 11-Ketopregnantriol (11-O-PT) im 24 h-Harn wurde bei 32 gesunden Neugeborenen und 3 Neugeborenen mit adrenogenitalem Syndrom untersucht. Der Beobachtungszeitraum erstreckte sich über die ersten 4 Lebenswochen. Die Bestimmung der Steroide erfolgte mittels Kapillarsäulengaschromatographie. In der zweiten und dritten Lebenswoche war bei den Patienten mit 21-Hydroxylasemangel lediglich 16α-OH-P'O im Urin pathognomonisch vermehrt nachweisbar. Die Werte betrugen 1023, 1611 (Alter 1–2 Wochen) und 2955 (Alter 3 Wochen) µg/Tag und standen damit im Gegensatz zu den wesentlich niedrigeren Mengen bei normalen Vergleichskindern (2. Lebenswoche: Mittelwert 243, Bereich: 0–520 µg/Tag; 3. Lebenswoche: Mittelwert 515, Bereich: 66–1541 µg/Tag).
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Supported by DFG, SFB 87, project C 3
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Homoki, J., Teller, W.M. Increased urinary excretion of total 16α-hydroxypregnenolone in newborn infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Klin Wochenschr 60, 407–410 (1982). https://doi.org/10.1007/BF01735932
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DOI: https://doi.org/10.1007/BF01735932