Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 12, 2004, Pages 6087-6091

  Homma, Keiko ^a   Hasegawa, Tomonobu ^a   Takeshita, Eiko ^a   Watanabe, Kiyoaki ^a   Anzo, Makoto ^a,b   Toyoura, Takio ^c   Jinno, Kazuhiko ^d   Ohashi, Toya ^e   Hamajima, Takashi ^f   Takahashi, Yukihiro ^g   Takahashi, Takao ^a   Matsuo, Nobutake ^a,h  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Tokyo Metropol Kiyose Children's H   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^d HIROSHIMA UNIVERSITY   (Japan)

^e JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f AICHI CHILDREN'S HEALTH AND MEDICAL CENTER   (Japan)

^g NARA MEDICAL UNIVERSITY HOSPITAL   (Japan)

^h NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYPROGESTERONE; PREGNANETRIOL; PREGNANETRIOLONE; SEX HORMONE; TETRAHYDROCORTISONE; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; FEMALE; GAS CHROMATOGRAPHY; HORMONE BLOOD LEVEL; HORMONE METABOLISM; HORMONE URINE LEVEL; HUMAN; MAJOR CLINICAL STUDY; MALE; MASS SPECTROMETRY; METABOLITE; NEWBORN; NEWBORN SCREENING; PREMATURITY; PRIORITY JOURNAL; STEROID 21 MONOOXYGENASE DEFICIENCY;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL HYPERPLASIA, CONGENITAL; CASE-CONTROL STUDIES; DIAGNOSIS, DIFFERENTIAL; FEMALE; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; MALE; PREGNANETRIOL; SENSITIVITY AND SPECIFICITY;

EID: 10344266972     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-0473     Document Type: Article

References (14)

1. Pang S, Hotchkiss J, Drash AL, Levine LS, New MI 1977 Micofilter paper method for 17α-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 45:1003-1008
2. American Academy of Pediatrics, Section on Endocrinology and Committee on Genetics 2000 Technical report: congenital adrenal hyperplasia. Pediatrics 106:1511-1518
3. Working Group on Neonatal Screening of the European Society for Pediatric Endocrinology 2001 Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res 55:201-205
4. Working Group on Congenital Adrenal Hyperplasia of the Japanese Society for Pediatric Endocrinology and the Japanese Society for Mass-screening 1999 Guidelines for diagnosing steroid 21-hydroxylase deficiency. Clin Pediatr Endocrinol 8:57-60
5. Kwon C, Farrell PM 2000 The magnitude and challenge of false-positive newborn screening test results. Arch Pediatr Adolesc Med 154:714-718
6. Hournor JW, Torresani T 2001 Evaluation of neonatal screening for congenital adrenal hyperplasia. Horm Res 55:206-211
7. Steigert M, Shoenle EJ, Biason-Lauber A, Torresani T 2002 High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland. J Clin Endocrinol Metab 87:4106-4330
8. New MI 2003 Inborn errors of adrenal steroidogenesis. Mol Cell Endocrinol 211:75-83
9. White PC, Speiser PW 2000 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 21:245-291
10. Wudy SA, Hartmann M, Homoki J 2000 Hormonal diagnosis of 21-hydroxylase deficiency in plasma and urine of neonates using bench top gas chromatography-mass spectrometry. J Endocrinol 165:679-683
11. Malunowicz EM, Mitkowska Z, Bal K, Nizankowska-Blaz T, Moszczynska E, Iwanicka Z, Romer TE 1997 Definitive diagnosis of enzymatic deficiencies of steroidogenesis in at-risk newborns and infants by urinary market analysis using GC/MS-SIM. Horm Res 48:243-251
12. Caulfield MP, Lynn T, Gottschalk ME, Jones KL, Taylor NF, Malunowicz EM, Shackleton CHL, Reitz RE, Fisher DA 2002 The diagnosis of congenital adrenal hyperplasia in the neonate by gas chromatography/mass spectrometry analysis of random urine specimens. J Clin Endocrinol Metab 87:3682-3690
13. Homma K, Hasegawa T, Masumoto M, Takeshita E, Watanabe K, Chiba H, Kurosawa T, Takahashi T, Matsuo N 2003 Reference values for urinary steroids in Japanese newborn infants: gas chromatography/mass spectrometry in selected ion monitoring. Endocr J 50:783-792
14. Shimozawa K, Toyoura T, Sekino T, Saisho S, Matsumoto M 1991 National newborn screening for 21OHD in Japan: incidence of persistently elevated blood 17OHP in neonates. In: Kuroda Y, ed. Japanese Ministry of Health and Welfare Research Project for the year of 1991. Japanese Ministry of Health and Welfare; 166-173