Case report I

Patient with vomiting and dehydration


Just a few weeks after birth baby Hannah started to vomit and have loose stool, she failed to thrive. Yesterday she stopped drinking milk and hasn’t produced any urine in the last 12 hours. Physical examination found her to be severely dehydrated with systolic blood pressure of 70 mm Hg.

Question 1:

What are the possible causes of this condition?

Lab results:

S-Na+ 124 mmol/l

S-K+ 7 mmol/l

S-Cl- 87 mmol/l

Leukocytes 14700/ul

Question 2:

What signalling system or systems could be impaired?

At what level?

How would you distinguish between a defect at the level of production and the level of effect?

How is the production of these molecules regulated?

During detailed examination the doctor noticed hyperpigmented genitalia with enlarged clitoris and fused labia maiora.

Question 2:

What signalling molecules could cause this unusual finding?

Subsequent laboratory tests found highly elevated serum concentration of 17-hydroxyprogesterone (120 ng/ml) and a CT scan showed massively enlarged adrenal glands.

Question 3:

What could be the cause of the laboratory results?

Explain how a defect in mineral management could be related to a defective development of external genitalia.

Why does the little girl have enlarged adrenal glands and why does she have hyperpigmentation?