HPI PE Labs
Imaging Gross Pathology Micro Pathology Treatment
A newborn is evaluated by a neonatologist because the intern who performed the delivery cannot tell whether the child is male or female (= AMBIGUOUS GENITALIA).
The child is also lethargic and lacks sufficient strength to suck on mother's milk adequately (due to salt wasting).
Ambiguous external genitalia; increase in size of clitoris; fusion of labia to the point of resembling scrotal sac.
Lytes: hyponatremia; hyperkalemia. Increase in 17-alpha-OH progesterone and its metabolite, pregnanetriol; increase in urinary 17-ketosteroids (defect is distal to 17, 20-
desmolase); elevated serum ACTH. Prenatal diagnosis possible at 14-16 weeks (due to increase in 17-alpha-OH progesterone). Karyotype: 46, XX female.
Cortisol, dehydrocorticosterone acetate if salt wasting is present.
The most common form of congenital adrenal hyperplasia.
Lack of 21-hydroxylase causes a decrease in Cortisol with a consequent increase in ACTH, which in turn produces hyperplasia of the adrenals—resulting in an increase in androgen production that gives rise to signs of female pseudohermaphroditism (as in this case) or enlarged genitalia in the male. May occur with or without salt wasting. p.326
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