Table 286-1
|
Deficiency
|
Newborn Phenotype
|
Postnatal Virilization
|
Other
|
|
StAR (also called lipoid congenital adrenal hyperplasia)
|
Infantile female
|
−
|
Salt loss
|
|
3ß-Hydroxylase
|
Ambiguous in XY and XX
|
+
|
Salt loss
|
|
17α-Hydroxylase (P450c17)
|
Infantile female
|
−
|
Delayed puberty
|
|
11ß-Hydroxylase (P450c11 ß)
|
Male in XY, ambiguous in XX
|
+
|
Hypertension
|
|
21 Hydroxylase (P450c21)
|
Male in XY, ambiguous in XX
|
+
|
Salt loss
|
|
18 Hydroxylase (P450c11B2)
|
Normal
|
−
|
Salt loss
|
Abbreviations: HT, hypertension; StAR, steroidogenic acute regulatory protein function.
From: Styne D.
Pediatric Endocrinology. Philadelphia, PA: Lippincott Williams & Wilkins; 2004.
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