Download PDF
Exp Clin Endocrinol Diabetes 1989; 94(6): 295-299
DOI: 10.1055/s-0029-1210912
Original

© J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York

Blood-Spot 17-Hydroxyprogesterone in Nonclassical 21-Hydroxylase Deficiency

J. Sólyom
  • 2nd Department of Paediatrics (Head: Prof. Dr. D. Schuler), Semmelweis University, Medical School, Budapest, Hungary
Further Information

Publication History

Publication Date:
16 July 2009 (online)

Also available at
  PDF Download  Permissions and Reprints

Summary

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-spoot 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.

Key words

Congenital adrenal hyperplasia - Nonclassical 21-hydroxylase deficiency - Blood-spot - 17-Hydroxyprogesterone

      >