PEDIATRICS Vol. 98 No. 3 September 1996, pp. 362-367
This Article
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Balsamo, A.
Right arrow Articles by Zappulla, F.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Balsamo, A.
Right arrow Articles by Zappulla, F.

Congenital Adrenal Hyperplasia: Neonatal Mass Screening Compared With Clinical Diagnosis Only in the Emilia-Romagna Region of Italy, 1980-1995

Antonio Balsamo MD1, Emanuele Cacciari MD1, Sandro Piazzi ChD2, Alessandra Cassio MD1, Daniela Bozza PhD2, Piero Pirazzoli MD1, and Franco Zappulla MD1

1 First Pediatric Clinic, University of Bologna, Bologna, Italy
2 Central Laboratory, S. Orsola Hospital, Bologna, Italy

Objective. Comparative study of the incidence of classic 21-hydroxylase deficiency congenital adrenal hyperplasia (2lase-def CAH) and clinical findings of affected infants diagnosed via newborn screening versus case survey only in the Emilia-Romagna region of Italy.

Methods. Neonatal mass screening (from March 1980 to September 1983—Period A, and from March 1991 to August 1995—Period C) and case survey study (from 1980 to June 1995; case survey alone from October 1983 to February 1991—Period B) were performed by the Regional Referral Center for Neonatal Screening for Endocrine-Metabolic Disease with a laboratory (Central Laboratory, S. Orsola Hospital, Bologna) and clinical (First Pediatric Clinic, University of Bologna, S. Orsola Hospital, Bologna) component. A population-based sample of 420 960 newborns consecutively born in the Emilia-Romagna region from March 1980 to August 1995 were studied. Spot 17-OH-progesterone (nmol/L blood) was tested by the radioimmunoassay method after sample extraction during Period A and by fluoroimmunometric time resolved method without sample extraction during Period C. Serum 17-OH-progesterone (ng/dL or nmol/L) was tested by the radioimmunoassay method (Diagnostic Product Corporation Kit, Los Angeles, CA). The case survey was performed by means of a questionnaire sent to all regional centers dealing with pediatrics, neonatology, endocrinology, and pediatric surgery.

Results. Thirteen classic 2lase-def CAH were diagnosed by means of neonatal screening (combined A and C periods). One true and one questionable false-negative cases were identified. The incidence of classical 21-hydroxylase deficiency for the white population was 1:15 518 (95% confidence limits 1:9249-1:28 400) by neonatal screening plus case survey, 1:18 105 (95% confidence limits 1:10 365-1:35 041) by neonatal screening alone and 1:25 462 (95% confidence limits 1:12 925-1:59 043) by case survey alone. The sensitivity and specificity of screening for classic CAH were 83% and 99.8% for Period A and 90% and 99.2% for Period C, respectively. The percentage of salt-wasting forms and the male/female ratio were higher during the neonatal screening period than during the case survey only. Sixtyone percent of classic CAH patients benefited from a prompt diagnosis. Nonclassical 2lase-def CAH cases detected via screening and case survey were also reported.

Conclusions. Even in a region with adequate neonatal services, clinical diagnosis alone of classic CAH might be delayed or misinterpreted and salt-wasting crises could cause neonatal deaths. CAH screening is thus an effective tool for diagnosing affected male infants without a family history of CAH and for preventing salt loss. However, to achieve maximal benefit from screening, quick procedures are necessary for notification of positive results and beginning prompt treatment. The possibility of false-negative cases indicates that clinical observation should never be abandoned, even with ongoing screening programs.

Submitted on April 18, 1995
Accepted on November 1, 1995




This article has been cited by other articles:


Home page
 AAP Grand RoundsHome page
S. K. Varma
False Negative CAH Screening Test More Likely in Girls
AAP Grand Rounds, April 1, 2006; 15(4): 47 - 48.
[Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
D. A. van Tijn, J. J. M. de Vijlder, B. Verbeeten Jr., P. H. Verkerk, and T. Vulsma
Neonatal Detection of Congenital Hypothyroidism of Central Origin
J. Clin. Endocrinol. Metab., June 1, 2005; 90(6): 3350 - 3359.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
S. Kosel, S. Burggraf, R. Fingerhut, H. G. Dorr, A. A. Roscher, and B. Olgemoller
Rapid Second-Tier Molecular Genetic Analysis for Congenital Adrenal Hyperplasia Attributable to Steroid 21-Hydroxylase Deficiency
Clin. Chem., February 1, 2005; 51(2): 298 - 304.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
M. Barbaro, S. Lajic, L. Baldazzi, A. Balsamo, P. Pirazzoli, A. Cicognani, A. Wedell, and E. Cacciari
Functional Analysis of Two Recurrent Amino Acid Substitutions in the CYP21 Gene from Italian Patients with Congenital Adrenal Hyperplasia
J. Clin. Endocrinol. Metab., May 1, 2004; 89(5): 2402 - 2407.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
A. Balsamo, A. Cicognani, L. Baldazzi, M. Barbaro, F. Baronio, M. Gennari, M. Bal, A. Cassio, K. Kontaxaki, and E. Cacciari
CYP21 Genotype, Adult Height, and Pubertal Development in 55 Patients Treated for 21-Hydroxylase Deficiency
J. Clin. Endocrinol. Metab., December 1, 2003; 88(12): 5680 - 5688.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
B. Olgemoller, A. A. Roscher, B. Liebl, and R. Fingerhut
Screening for Congenital Adrenal Hyperplasia: Adjustment of 17-Hydroxyprogesterone Cut-Off Values to Both Age and Birth Weight Markedly Improves the Predictive Value
J. Clin. Endocrinol. Metab., December 1, 2003; 88(12): 5790 - 5794.
[Abstract] [Full Text] [PDF]

Home page
 NEJMHome page
P. W. Speiser and P. C. White
Congenital Adrenal Hyperplasia
N. Engl. J. Med., August 21, 2003; 349(8): 776 - 788.
[Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
M. Steigert, E. J. Schoenle, A. Biason-Lauber, and T. Torresani
High Reliability of Neonatal Screening for Congenital Adrenal Hyperplasia in Switzerland
J. Clin. Endocrinol. Metab., September 1, 2002; 87(9): 4106 - 4110.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
J. Kovacs, F. Votava, G. Heinze, J. Solyom, J. Lebl, Z. Pribilincova, H. Frisch, T. Battelino, and F. Waldhauser
Lessons From 30 Years of Clinical Diagnosis and Treatment of Congenital Adrenal Hyperplasia in Five Middle European Countries
J. Clin. Endocrinol. Metab., July 1, 2001; 86(7): 2958 - 2964.
[Abstract] [Full Text] [PDF]

Home page
 Endocr. Rev.Home page
P. C. White and P. W. Speiser
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Endocr. Rev., June 1, 2000; 21(3): 245 - 291.
[Abstract] [Full Text]

Home page
 J. Clin. Endocrinol. Metab.Home page
D. Chin, P. W. Speiser, J. Imperato-McGinley, N. Dixit, N. Uli, R. David, and S. E. Oberfield
Study of a Kindred with Classic Congenital Adrenal Hyperplasia: Diagnostic Challenge due to Phenotypic Variance
J. Clin. Endocrinol. Metab., June 1, 1998; 83(6): 1940 - 1945.
[Abstract] [Full Text]

Home page
 PediatricsHome page
B. L. Therrell Jr, S. A. Berenbaum, V. Manter-Kapanke, J. Simmank, K. Korman, L. Prentice, J. Gonzalez, and S. Gunn
Results of Screening 1.9 Million Texas Newborns for 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Pediatrics, April 1, 1998; 101(4): 583 - 590.
[Abstract] [Full Text] [PDF]

Home page
 PediatricsHome page
A. Thilen, A. Nordenstrom, L. Hagenfeldt, U. von Dobeln, C. Guthenberg, and A. Larsson
Benefits of Neonatal Screening for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in Sweden
Pediatrics, April 1, 1998; 101 (4): e11 - e11.
[Abstract] [Full Text] [PDF]