Universität zu Köln

Hammersen, Johanna, Bettendorf, Markus, Bonfig, Walter, Schoenau, Eckhard, Warncke, Katharina, Eckert, Alexander J., Fricke-Otto, Susanne, Palm, Katja, Holl, Reinhard W. and Woelfle, Joachim (2022). Twenty years of newborn screening for congenital adrenal hyperplasia and congenital primary hypothyroidism - experiences from the DGKED/AQUAPE study group for quality improvement in Germany. Med. Genet., 34 (1). S. 29 - 41. BERLIN: WALTER DE GRUYTER GMBH. ISSN 1863-5490

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Abstract

Congenital primary hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) are targeted by the German and Austrian newborn screening. For both diseases, there are registries for quality improvement, based on standardized observational data from long-term patient follow-up, under the auspices of the DGKED study group. By September 2021, the CH registry HypoDOK includes datasets from 23,348 visits of 1,840 patients, and the CAH registry contains datasets from 36,237 visits of 1,976 patients. Here, we report on the recruitment process, patient characteristics, and research contributions from the registries, and underline that the registries are an important tool to improve patient care and outcomes. Registries for rare conditions should thus be considered as an important public health measure and they should be adequately institutionalized and funded.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hammersen, Johanna UNSPECIFIED UNSPECIFIED UNSPECIFIED Bettendorf, Markus UNSPECIFIED UNSPECIFIED UNSPECIFIED Bonfig, Walter UNSPECIFIED UNSPECIFIED UNSPECIFIED Schoenau, Eckhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Warncke, Katharina UNSPECIFIED UNSPECIFIED UNSPECIFIED Eckert, Alexander J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fricke-Otto, Susanne UNSPECIFIED UNSPECIFIED UNSPECIFIED Palm, Katja UNSPECIFIED UNSPECIFIED UNSPECIFIED Holl, Reinhard W. UNSPECIFIED UNSPECIFIED UNSPECIFIED Woelfle, Joachim UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-689391
DOI:	10.1515/medgen-2022-2114
Journal or Publication Title:	Med. Genet.
Volume:	34
Number:	1
Page Range:	S. 29 - 41
Date:	2022
Publisher:	WALTER DE GRUYTER GMBH
Place of Publication:	BERLIN
ISSN:	1863-5490
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CHILDREN; HYDROCORTISONE; ADOLESCENTS; TRANSIENT; INFANTS; CAH Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/68939