Let's go on to another case
A 6-day old newborn girl is brought to the hospital by
a mother because of excessive vomiting and poor feeding.
The mother did not have any antenatal care.
Her temperature is 36.8 degrees celsius, her blood pressure
is 50/30 mmHg and her pulse rate is 150 beats per minute.
On examination, the infant is dehydrated
and demonstrates signs of shock
The genitalia are ambiguous with
a fused labia and an enlarged clitoris
Lab results show a sodium of 125 mEq/L, a potassium of 6 mEq/L
and a serum 17-hydroxyprogesterone level of 100,000 ng/dL
What is the most likely cause of this infant's condition?
Here we have a newborn who presents
with vomiting and poor feeding.
There was no prenatal care and no
evaluation of the mother during pregnancy
She has a low blood pressure
and evidence of shock.
The patient is dehydrated, she has abnormal
genitalia but she also has hyponatremia.
A normal sodium level would be
around 140 and here hers is 125
Coupled with the hypokalemia
and the low blood pressure,
we're thinking very strongly about an adrenal
problem here causing her presentation.
Confirming this is the high level
We perfom a ACTH stimulation test to confirm the
diagnosis of congenital adrenal hyperplasia.