A 6 week old child was admitted to hospital after a failure to gain weight appropriately and subsequent examination found them to be dehydrated. Although the child appeared phenotypically female, karyotyping showed the child to be 46XY. Laboratory tests showed the following results: Variable Na* (mm) K+ (MM) Pregnenlone (nM) 17-OH Pregnenolone (nM) Dehydroepiandrosterone (nM) Cortisol (nM) 17-OH Progesterone (nM) O 20-22 desmolase 7 17 alpha-hydroxylase Using the information above, and with reference to Figure 1 that was provided within the congenital adrenal hyperplasia worksheet and shows the pathways of sterlod blosynthesis, deduce the position of the metabolic block and indicate below which enzyme is most likely to be deficient. Tick one option O 17-20-iyase O 3 beta-hydroxysteroid dehydrogenase O21-hydroxylase Result 118 5.9 521 689 35 31 0.8 O 17 beta-hydroxysteroid dehydrogenase O 11-hydroxylase O 18-hydroxylase O 18-hydroxysteroid dehydrogenase Reference Range 134-147 3.5-5.0 0.3-1.5 6.8-93.5 0.34-7.2 138-690 5-15
A 6 week old child was admitted to hospital after a failure to gain weight appropriately and subsequent examination found them to be dehydrated. Although the child appeared phenotypically female, karyotyping showed the child to be 46XY. Laboratory tests showed the following results: Variable Na* (mm) K+ (MM) Pregnenlone (nM) 17-OH Pregnenolone (nM) Dehydroepiandrosterone (nM) Cortisol (nM) 17-OH Progesterone (nM) O 20-22 desmolase 7 17 alpha-hydroxylase Using the information above, and with reference to Figure 1 that was provided within the congenital adrenal hyperplasia worksheet and shows the pathways of sterlod blosynthesis, deduce the position of the metabolic block and indicate below which enzyme is most likely to be deficient. Tick one option O 17-20-iyase O 3 beta-hydroxysteroid dehydrogenase O21-hydroxylase Result 118 5.9 521 689 35 31 0.8 O 17 beta-hydroxysteroid dehydrogenase O 11-hydroxylase O 18-hydroxylase O 18-hydroxysteroid dehydrogenase Reference Range 134-147 3.5-5.0 0.3-1.5 6.8-93.5 0.34-7.2 138-690 5-15
Chapter16: Adult And Pediatric Dosages Based On Body Surface Area
Section: Chapter Questions
Problem 4.2P
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