A two-month old child was admitted to hospital after failure to thrive. The “boy”, whose external genitalia were ambiguous, was found to have elevated blood pressure, but no dehydration. The following measurements were made on a plasma sample taken on admission: Variable Result Reference Range Urea (mM) 6.2 2.5 - 7.0 Creatinine (μ�M) 95 60 - 120 Glucose (mM) 4.3 3.5 - 5.5. (fasting) Na+ (mM) 170 134 -147 K+ (mM) 2.8 3.5 - 5.0 11 -deoxycortisol (nM) 57 <10 Deoxycorticosterone (nM) 1.3 <0.4 Cortisol (nM) 22 138 - 690 Testosterone (nM) 7.4 0.5 -3.2 (adult female) 5 - 40 (adult male) The concentrations of progesterone, 17-hydroxyprogesterone and ∆4-androstenedione were also increased above the reference range. A chromosome analysis showed that the child was a genotypic female (46, XX karyotype). A consultant obstetrician initially diagnosed congenital adrenal hyperplasia, however they were confused by the hypertension and the lack of dehydration QUESTION:. As an expert in endocrinology, while you reassure the consultant obstetrician that their initial diagnosis was correct and that the patient is indeed suffering from congenital adrenal hyperplasia, explain why the patient is hypertensive and also lacking in dehydration.
A two-month old child was admitted to hospital after failure to thrive. The “boy”, whose external genitalia were ambiguous, was found to have elevated blood pressure, but no dehydration. The following measurements were made on a plasma sample taken on admission:
|
Variable |
Result |
Reference Range |
| Urea (mM) | 6.2 | 2.5 - 7.0 |
| Creatinine (μ�M) | 95 | 60 - 120 |
| Glucose (mM) | 4.3 | 3.5 - 5.5. (fasting) |
|
Na+ (mM) |
170 |
134 -147 |
|
K+ (mM) |
2.8 |
3.5 - 5.0 |
|
11 -deoxycortisol (nM) |
57 |
<10 |
|
Deoxycorticosterone (nM) |
1.3 |
<0.4 |
|
Cortisol (nM) |
22 |
138 - 690 |
|
Testosterone (nM) |
7.4 |
0.5 -3.2 (adult female) 5 - 40 (adult male) |
The concentrations of progesterone, 17-hydroxyprogesterone and ∆4-androstenedione were also increased above the reference range.
A chromosome analysis showed that the child was a genotypic female (46, XX karyotype).
A consultant obstetrician initially diagnosed congenital adrenal hyperplasia, however they were confused by the hypertension and the lack of dehydration
QUESTION:.
As an expert in endocrinology, while you reassure the consultant obstetrician that their initial diagnosis was correct and that the patient is indeed suffering from congenital adrenal hyperplasia, explain why the patient is hypertensive and also lacking in dehydration.
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