The patient who gave a positive test for 21-hydroxylase in Q3. is a 46-year-old woman. She is complaining of weakness, fatigue, loss of appetite and weight loss, increase in thirst and increased urination.  She also suffered occasional dizziness, particularly when standing.  She has no prior medical history and is not taking any medication. On examination, supine blood pressure was normal, but a marked postural hypotension was noted on standing.  Following some basic blood tests (see below), the GP makes a provisional diagnosis of Addison’s Disease. Variable Result Reference Range Urea (mM) 7.55 2.5 - 7.0 Creatinine (mM) 82 60 - 120 Glucose (mM) 3.25 3.5 - 5.5 (fasting) Na+ (mM) 119 134 -147 K+ (mM) 6.8 3.5 - 5.0 Cortisol (nM) 48 138 - 690 ACTH (pM) 236 < 26 Aldosterone (pM) 27 90 - 700 The patient was referred by the GP for follow up tests with the endocrinologist.  The tests included measurements of cortisol, ACTH and aldosterone levels (shown in the table) and also the test for antibodies against 21-hydroxylase.  a) Using the the data in the table, the test results from the follow up with the endocrinologist and the test for autoantibodies against 21-hydroxylase, do you agree or disagree with the provisional diagnosis by the GP?  Briefly explain your answer.

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
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The patient who gave a positive test for 21-hydroxylase in Q3. is a 46-year-old woman. She is complaining of weakness, fatigue, loss of appetite and weight loss, increase in thirst and increased urination.  She also suffered occasional dizziness, particularly when standing.  She has no prior medical history and is not taking any medication. On examination, supine blood pressure was normal, but a marked postural hypotension was noted on standing.  Following some basic blood tests (see below), the GP makes a provisional diagnosis of Addison’s Disease.

Variable

Result

Reference Range

Urea (mM)

7.55

2.5 - 7.0

Creatinine (mM)

82

60 - 120

Glucose (mM)

3.25

3.5 - 5.5 (fasting)

Na+ (mM)

119

134 -147

K+ (mM)

6.8

3.5 - 5.0

Cortisol (nM)

48

138 - 690

ACTH (pM)

236

< 26

Aldosterone (pM)

27

90 - 700

The patient was referred by the GP for follow up tests with the endocrinologist.  The tests included measurements of cortisol, ACTH and aldosterone levels (shown in the table) and also the test for antibodies against 21-hydroxylase. 

a) Using the the data in the table, the test results from the follow up with the endocrinologist and the test for autoantibodies against 21-hydroxylase, do you agree or disagree with the provisional diagnosis by the GP?  Briefly explain your answer. 

 

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