title: Blood-spot 17-hydroxyprogesterone in nonclassical 21-hydroxylase deficiency.
abstract: The value of blood-spot 17-hydroxyprogesterone (17-OHP) measurements in selective screening for non-classical 21-hydroxylase deficiency (NC 21-OHD) among female patients with postnatal virilization was studied. Early morning basal blood-spot and serum samples, and post-ACTH serum samples for 17-OHP measurement were collected from twenty-seven patients with precocious pubarche, hirsutism and/or menstrual abnormalities (age: 3 to 17 years). Using a two-step extraction method for blood-spot 17-OHP measurements of all the nine patients with NC 21-OHD showed higher values than the eighteen patients without 21-OHD. Blood-spot 17-OHP values of patients with NC 21-OHD showed a diurnal rhythm with pathological high levels between 0500 and 0900 h, and normal or slightly elevated levels between 1700 and 2100 h. In conclusion, early morning blood-spot 17-OHP measurement is a useful method to detect NC 21-OHD in the peripubertal period.
authors.affiliation: 2nd Department of Paediatrics, Semmelweis University, Medical School, Budapest, Hungary.
authors.forename: J
authors.initials: J
authors.lastname: Sólyom
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood*; D006899:Mixed Function Oxygenases / Q000172:deficiency*; D013997:Time Factors; D014770:Virilism / Q000097:blood / Q000175:diagnosis
chemical_list: D006908:Hydroxyprogesterones; D006899:Mixed Function Oxygenases