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Cited by 9 publications
(14 citation statements)
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References 30 publications
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“…1). By contrast, 17α-hydroxylase activity reflected by the ratio of corticosterone over cortisol metabolites was significantly impaired in previously described patients with CYP17A1 and POR mutations as the cause of apparently isolated 17,20 lyase activity (12, 18) (Fig. 1).…”
Section: Resultsmentioning
confidence: 59%
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“…1). By contrast, 17α-hydroxylase activity reflected by the ratio of corticosterone over cortisol metabolites was significantly impaired in previously described patients with CYP17A1 and POR mutations as the cause of apparently isolated 17,20 lyase activity (12, 18) (Fig. 1).…”
Section: Resultsmentioning
confidence: 59%
“…1). By contrast, 17α-hydroxylase activity as reflected by the corticosterone over cortisol metabolite ratio was clearly compromised in previously reported patients with apparently isolated 17,20 lyase deficiency due to mutant CYP17A1 or POR, although to a lesser degree than in patients considered to have classical, complete 17OHD (12, 18) (Fig. 1).…”
Section: Discussionmentioning
confidence: 65%
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“…The result is that progesterone and corticosterone are particularly increased in the circulation (Figures 3 and 4) 59 . Of note, in addition to both cortisol and C19 steroids in general being equally depressed in these individuals (see for instance 60; 61 ), 17-hydroxyprogesterone is diminished in contrast to clear elevation of progesterone in these subjects (Figures 3 and 4). …”
Section: ) the Search For A Selective 1720 Lyase Inhibitor – Is It mentioning
confidence: 82%
“…4 A ausência de hormônios sexuais cursa com infantilismo sexual, e o aumento de mineralocorticoides pode provocar hipertensão arterial, hipocalemia e alcalose. 1,4,5 O tratamento é feito por meio da reposição hormonal de estrogênio, estimulando o desenvolvimento sexual e de corticoide para diminuir os níveis de mineralocorticoides. 4 Pelo fato de essa condição ser extremamente rara, este relato de caso foi realizado com o intuito de lembrar aos ginecologistas a importância do tema como diagnóstico diferencial nos casos de amenorreia primária.…”
Section: Introductionunclassified