The value of serum levels of dehydroepiandrosterone sulfate as a screening test for late-onset congenital adrenal hyperplasia

Abstract

Objective: To evaluate the use of serum level of dehydroepiandrosteronesulfate as a screening test for late-onset congenital adrenal hyperplasia.Methods: Fourteen hirsute women with elevated serum levels ofdehydroepiandrosterone sulfate, 17 hirsute women with normal serumlevels of dehydroepiandrosterone sulfate, and 12 non-hirsute ovulatorywomen were selected. Blood samples were collected before and 1hour after the adrenocorticotropic hormone stimulation test. Serumlevels of dehydroepiandrosterone sulfate were measured before theadrenocorticotropic hormone stimulation test. Serum levels of 17-hydroxyprogesterone, compound S, 17-hydroxypregnenolone,dehydroepiandrosterone, androstenedione, and cortisol weremeasured 1 hour after the adrenocorticotropic hormone stimulationtest. Results: Two hirsute women with elevated serum levels ofdehydroepiandrosterone sulfate satisfied the criterion for late-onsetcongenital adrenal hyperplasia due to 21-hydroxylase deficiency, i.e.,a serum level of 17-hydroxyprogesterone after the adrenocorticotropichormone stimulation test >1000 ng/dL. No hirsute woman had 11bhydroxylaseor 3b-hydroxysteroid dehydrogenase deficiency.Conclusions: Serum level of dehydroepiandrosterone sulfate is usefulas a screening test for late-onset congenital adrenal hyperplasia. Anelevated serum level of dehydroepiandrosterone sulfate does notnecessarily mean an adrenal enzymatic defect, whereas a normalvalue excludes the possibility of late-onset congenital adrenalhyperplasia.

Keywords

• Adrenal hyperplasia
• congenital
• Dehydroepiandrosterone
• Hirsutism
• Steroid 21-hydroxylase
• Steroid 11-beta-hydroxylase
• 3-Hydroxysteroid dehydrogenases