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
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Transcribed Image Text: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
P
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
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