Navegando por Palavras-chave "17-hydroxyprogesterone"

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    21-hydroxylase deficiency transiently mimicking combined 21- and 11 beta-hydroxylase deficiency
    (Walter De Gruyter Gmbh, 2008-05-01) Tonetto-Fernandes, Vânia [UNIFESP]; Lemos-Marini, Sofia Helena Valente de; Mello, Maricilda Palandi de; Ribeiro-Neto, Luciane Maria [UNIFESP]; Kater, Claudio Elias [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade Estadual de Campinas (UNICAMP)
    21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11 beta OHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 210HD and 11 beta OHD (AC21,11OHD) have been occasionally reported. A 6 year-old girl, born with ambiguous genitalia and salt-loss, had serum elevations (ng/dl) of androstenedione (>1,000), 17-hydroxy-progesterone (17OHP; 38,483), 21-deoxycortisol (21DF; 23,338), and 11-deoxycortisol (S; 4,928), suggesting AC21,11OHD. CYP21A and CYP11B1 genotyping identified mutations only in the former. On follow-up, serum S became normal but 17OHP and 21DF were still elevated. ACTH stimulation disclosed elevated levels of 17OHP and 21DF, but unresponsive S and undetectable deoxycorticosterone. The hormonal pattern initially suggested AC21,11OHD, but subsequent normalization of S showed transient 11-hydroxylase inhibition. This may have occurred by enzyme or co-enzyme immaturity or functional discrepancy, but also by selective inhibition of 11 beta-OH by excess intra-adrenal concentration of androgens, acting as pseudo-substrates for this enzyme.
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    Adrenal steroids synthesis during acute infectious diseases in infants
    (Freund Publishing House Ltd, 2002-11-01) Longui, C. A.; Zlochevsky, ERM; Bachega, Tania Aparecida Sartori Sanchez [UNIFESP]; Monte, O.; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP)
    An increase in plasma 17OHP found in infants requiring differential diagnosis between septic shock and adrenal failure led us to look for adrenal steroids pattern during infection. Infants and Methods: 56 infants, 1-6 months old, were studied during infection of different degrees of severity. Plasma cortisol, 17OHP, androstenedione, DHEA, DHEA-S and testosterone were measured.Results: 24 patients showed an expected cortisol elevation. One child had a low cortisol level. The concentration of 17OHP was above 6.0 nmol/l (200 ng/dl) in 41 patients and above 30.2 nmol/l (1,000 ng/dl) in 10. Higher 17OHP levels and more severe diseases correlated positively.Conclusions: During infectious diseases some patients demonstrated not only cortisol elevation but also 17OHP as high as that observed in NC-CAH. We suggest that if 17OHP elevation is not characteristic of SL-CAH, glucocorticoid therapy should be started and an ACTH test should be performed after recovery before ruling out this pathology.