Congential lipoid adrenal hyperplasia is the most severe form of CAH, leading to impaired production of all steroid hormones including glucocorticoids, mineralocorticoid, and sex steroids. The affected individuals are all phenotypically female
with
a
severe salt-losing syndrome that is fatal if steroid replacement is not begun immediately after birth. The lesion of this disorder has been suggested to be in the first step of steroidogenesis of conversion of cholesterol to pregnenolone by
P450scc.
Recently, molecular defect of this disease has been located in the transport of cholesterol into mitochondria due to defective regulatory protein called 'steroidogenic acute regulatory protein' while the enzyme P450scc itself is normal, differing
from
other types of congenital adrenal hyperplasia.
We experienced 2 1/2 month old phenotypical girl who was admitted due to lethargic state and persistent vomiting with severe hyperkemia and hyponatremia. Blood levels of cortisol, aldosteron, and 17-OH progesteron were low and levels of ACTH,
angiotensin, and plasma renin activity were high, urinary levels of 17-KS and 17-OHCH were low. The patient was found to have karyotype of 46, XY and has been being treated with predinisolone, fluorocortisol and sodium supplement in diet and
doing
well.
The molecular study for P450scc gene and StAR gene of patient and family is in progress.
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