Read 17-Hydroxyprogesterone, LC/MS/MS text version

17-Hydroxyprogesterone, LC/MS/MS

17180X 17654X

Clinical Use · Marker for adrenal P450c21 (21-hydroxylase) enzyme deficiency Reference Range Adults (17180X) Men 18-30 y 31-40 y 41-50 y 51-60 y Women Follicular phase Midcycle phase Luteal phase Postmenopausal ng/dL ng/dL 32-307 42-196 33-195 37-129 <185 <225 <285 <45

Neonatal/Infant (17654X)* Premature infants (31-35 wk) <360 Term infants (3 d) <420 1-12 mo 11-170 1-4 y 4-115 5--9 y <90 10-13 y <169 14-17 y 16-283 ACTH Baseline 60 min stimulation 1-12 mo 11-170 85-465 1-5 y 4-115 50-350 6-12 y 7-69 75-220 Tanner II-III Males 12-130 69-310 Females 18-220 80-420 Tanner IV-V Males 51-190 105-230 Females 36-200 80-225

*Includes data from J Clin Metab. 1991; 73:674-686; J Clin Endocrinol Metab. 1989; 69:1133-1136; and J Clin Endocrinol Metab. 1994;78:266-270.

Clinical Background 17-Hydroxyprogesterone (17-OHP) is an adrenal steroid intermediate in the biosynthesis of cortisol. Its synthesis from progesterone is catalyzed by the enzyme P450c17; it is then further metabolized to cortisol or androstenedione. 17-OHP measurement is appropriate when complete or partial 21-hydroxylase deficiency is suspected in 1) infants with features of adrenal insufficiency (hypotension, vomiting, fever, hypoglycemia, and hyperkalemia) or ambiguous genitalia and 2) women with clinical evidence of possible androgen excess, particularly Ashkenazi Jews who have a high prevalence of nonclassical 21-hydroxylase deficiency. Some authorities consider measurement of ACTHstimulated 17-OHP levels essential to exclude the diagnosis. Cushing's disease may also cause elevated 17-OHP levels and should be excluded before glucocorticoid treatment of presumed nonclassical 21-hydroxylase deficiency is considered. Method · Liquid chromatography, tandem mass spectrometry (LC/MS/MS) · Analytical sensitivity: 8 ng/dL Specimen Requirements 0.5 mL frozen serum (no additive red top tube); 0.25 mL minimum SST red top unacceptable Interpretive Information · Congenital adrenal hyperplasia (CAH), 21-hydroxylase deficiency · Male pseudohermaphroditism (P450c17 deficiency) · Late-onset CAH · Cushing's disease · Steroid treatment (cortisone, hydrocortisone) · Addison's disease

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17-Hydroxyprogesterone, LC/MS/MS

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