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Summary Infantile acne is a rare condition which usually begins after the third month of life and appears mainly on the cheeks. Spontaneous healing typically occurs within 2 years. A 2-year-old boy developed acne infantum during the first days after birth; it failed to respond to topical treatment. Detailed physical examination and endocrinologic evaluation confirmed the presumed diagnosis of congenital adrenal hyperplasia (CAH), and showed it was caused by 11-beta-hydroxylase deficiency. CAH comprises a group of autosomal-recessively inherited disorders. These hereditary enzyme defects in steroid biosynthesis cause glucocorticoid deficiency and an overproduction of biosynthetic precursor steroids. Adrenal androgen biosynthesis is not impaired but shows a massive reactive overproduction due to the increased ACTH secretion within the up-regulated hypothalamo-pituitary-adrenal system. The characteristic features of CAH in male infants are demonstrated on the basis of this case report. Zusammenfassung Die Acne infantum ist eine seltene Hauterkrankung, die gewohnlich nach dem 3. Lebensmonat beginnt und sich hauptsachlich im Bereich der Wangen manifestiert. Eine spontane Abheilung innerhalb von 2 Jahren ist typisch. Wir berichten uber einen knapp 2-jahrigen Jungen mit einer seit den ersten Lebenstagen bestehenden Akne, die sich als therapieresistent erwies. Ausfuhrliche klinische und endokrinologische Untersuchungen bestatigten die Verdachtsdiagnose eines adrenogenitalen Syndroms, das sich in weiterfuhrenden Untersuchungen auf einen 11-beta-Hydroxylase-mangel zuruckfuhren lies. Das adrenogenitale Syndrom (AGS) beinhaltet eine Gruppe autosomal-rezessiv vererbter Enzymdefekte in der Steroidhormonbiosynthese, die zu einem Mangel an Glukokortikoiden und zu einer Uberproduktion der Steroidvorlaufer fuhren. Die nicht beeintrachtigte Androgensynthese erfahrt uber das adrenokortikotrope Hormon (ACTH), das innerhalb des Regelsystems “Hypothalamus-Hypophy-senvorderlappen-Nebennierenrinde” reaktiv verstarkt ausgeschuttet wird, eine massive Uberproduktion. Anhand der Kasuistik werden die Charakteristika des AGS beim mannlichen Kleinkind dargestellt.

(L)-SKF 12185, a reversible inhibitor of the enzyme 11 beta-hydroxylase, can, if radioiodinated, be used for the scintigraphic imaging of the adrenal cortex. An increased uptake of 131I-(L)-SKF 12185 was observed therein 2-3 hrs after ACTH stimulation. This effect can be explained by the steroid neogenesis induced by ACTH stimulation and the activation of the required enzymes connected therewith. The inhibitor attaches competitively with the relevant substrates to the free enzyme binding sites and produces an enhanced adrenal uptake. Thus ACTH stimulation increased the 3 hr uptake by 69% whereas the 24 hr uptake which, because of its relatively high adrenal/liver ratio, is more useful in the scintigraphic imaging of the adrenals, could not be improved significantly.

Young, healthy male patients undergoing body surface surgery under fentanyl-nitrous oxide-oxygen anesthesia were given an etomidate bolus for induction (0.3 mg/kg body weight) followed by a continuous infusion (0.36 mg.kg-1.h-1). The total etomidate dose was 63 +/- 6.4 mg (mean +/- standard error). Basal cortisol levels as well as the adrenocortical response to exogenous synthetic ACTH1-24 (0.25 mg i.m.) were determined preoperatively, at the end of anesthesia, and 6 and 20 h postoperatively. The reduction of the response to ACTH stimulation measured postoperatively as compared to preoperatively was calculated as percentage of the preoperative response. Plasma concentrations of etomidate were measured at the same sample times by gas chromatography. At the end of anesthesia the plasma level was 570 +/- 131 nM (mean +/- standard error). It decreased to 99 +/- 23 nM 6 h later and to 43 +/- 3 nM 20 h postoperatively. The plasma concentrations were plotted against the inhibition data. We found a sigmoid relationship between the relative inhibition and the log of the etomidate concentrations. We determined an EC50 for inhibition of 110 nM that agrees well with published data. We also found that the cortisol response was not completely suppressed at the concentrations measured here. This supports the results of a previous study in which we found that patients undergoing cardiovascular surgery still exhibited intra- and postoperative cortisol increases although they had been given large doses of etomidate. We conclude that the suppression of corticosteroid synthesis caused by etomidate is concentration-dependent. The suppression is negligible at concentrations lower than 40 nM.(ABSTRACT TRUNCATED AT 250 WORDS)