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Klin Padiatr 2015; 227(05): 278-283
DOI: 10.1055/s-0035-1554639
Original Article
© Georg Thieme Verlag KG Stuttgart · New York

Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase-Deficiency: 13 Years of Neonatal Screening and Follow-up in Bavaria

Klassisches AGS durch 21-Hydroxylasemangel: 13 Jahre Neugeborenenscreening und Langzeitbeobachtung in Bayern
B. Odenwald
1   Bavarian Health and Food Safety Authority, Oberschleißheim, Germany
,
H.-G. Dörr
2   Department of Pediatrics, University of Erlangen-Nürnberg, Erlangen, Germany
,
W. Bonfig
3   Department of Pediatrics, Technical University Munich (TUM), Munich, Germany
,
H. Schmidt
4   Department of Pediatrics, Ludwig-Maximilians-University Munich (LMU), Munich, Germany
,
R. Fingerhut
5   Department of Pediatrics, University of Zurich, Zurich, Switzerland
,
M. Wildner
1   Bavarian Health and Food Safety Authority, Oberschleißheim, Germany
,
U. Nennstiel-Ratzel
1   Bavarian Health and Food Safety Authority, Oberschleißheim, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
19 June 2015 (online)

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Abstract

Background: 21-Hydroxylase deficient (21-OHD) classic congenital adrenal hyperplasia (CAH) is a potentially lethal inherited endocrine disorder. It is included in many neonatal screening programs to prevent morbidity and mortality from salt-wasting and to reduce long-term health problems. This paper presents a population-based evaluation of CAH screening quality and outcome in Bavaria between 1999 and 2011 including long-term follow-up of patients.

Methods: Screening process quality, clinical complications during the neonatal period, treatment and development of patients up to the age of 4 years were analysed.

Results: Among 1 420 102 screened infants, 114 cases of 21-OHD classic CAH were detected (prevalence 1:12 457). Mean age at start of treatment was 7 days. However, in 29 cases (25.4%), age at start of treatment was 12 days or more. The frequency of neonatal salt-wasting increased with age at start of treatment, but all neonatal salt-wasting episodes and crises were managed successfully. Up to the age of 4 years, developmental assessment of the CAH cohort yielded normal results.

Discussion: Epidemiological and screening effectiveness results are in keeping with other publications. For the most part, screening process times were compliant with guidelines. The Bavarian CAH screening and tracking system proved successful, but there were process delays and complications which might have been avoidable. The outcome supports the benefits of CAH screening, but further research is necessary to increase CAH screening effectiveness and to evaluate long-term effects.

Zusammenfassung

Hintergrund: Das klassische adrenogenitale Syndrom (AGS) durch 21-Hydroxylasemangel, eine potentiell lebensbedrohliche erbliche Hormonstörung, ist Bestandteil vieler Neugeborenenscreening-Programme. Das Screening soll dazu beitragen, Morbidität und Mortalität durch Salzverlust zu reduzieren sowie Spätfolgen der Erkrankung zu verhindern. Anhand populationsbasierter Daten einschließlich einer Langzeitbeobachtung im Screening entdeckter Patienten wurden Qualität und Outcome des AGS-Screenings in Bayern von 1999 bis 2011 untersucht.

Methode: Die Auswertung umfasste die Prozessqualität des Screenings und Komplikationen im Neugeborenenalter sowie Versorgung und Entwicklung der Kinder bis zum Alter von 4 Jahren.

Ergebnisse: Unter 1 420 102 gescreenten Neugeborenen wurden 114 Kinder mit klassischem AGS durch 21-OH-Mangel entdeckt (Prävalenz 1:12 457). Das mittlere Alter bei Behandlungsbeginn betrug 7 Tage. 29 Kinder (25,4%) wurden jedoch erst im Alter von 12 Tagen oder später behandelt. Mit späterem Behandlungsbeginn trat häufiger Salzverlust auf. Alle Salzverlustkrisen konnten erfolgreich behandelt werden. Bis zum Alter von 4 Jahren war die psychomotorische Entwicklung der AGS-Kohorte unauffällig.

Diskussion: Die Ergebnisse zu Epidemiologie und Effektivität des Screenings entsprechen denen anderer Publikationen. Die Prozesszeiten lagen überwiegend im von den Richtlinien vorgegebenen Bereich. Das bayerische Screening- und Trackingsystem erwies sich als erfolgreich, aber dennoch kam es zu Verzögerungen und Komplikationen, die möglicherweise vermeidbar gewesen wären. Die Ergebnisse sprechen insgesamt für einen Nutzen des AGS-Screenings. Effektivitätssteigerung und Langzeitnutzen des AGS-Screenings bieten jedoch Ansatzpunkte für weitere Forschung.

Key words

classic congenital adrenal hyperplasia - CAH - 21-hydroxylase deficiency - neonatal screening - long-term follow-up

Schlüsselwörter

Klassisches Adrenogenitales Syndrom - AGS - 21-Hydroxylase-Mangel - Neugeborenenscreening - Langzeitbeobachtung
 

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