Guideline Adherence and Registry Recruitment of Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (HypoDok)

Abstract

Neonatal screening for congenital primary hypothyroidism (CH) is mandatory in Germany but medical care thereafter remains inconsistent. Therefore, the registry HypoDok of the German Society of Pediatric Endocrinology and Diabetology (DGKED) was analyzed to evaluate the implementation of evidence-based guidelines and to assess the number of included patients. Inclusion criteria were (i) date of birth between 10/2001 and 05/2020 and (ii) increased thyroid-stimulating hormone (TSH) at screening and/or confirmation. The cohort was divided into before (A) and after (B) guideline publication in 02/2011, to assess the guideline’s influence on medical care. A total of 659 patients were analyzed as group A (n = 327) and group B (n = 332) representing 17.5% and 10.3% of CH patients identified in the German and Austrian neonatal screening program during the respective time period. Treatment start and thyroxine doses were similar in both groups and consistent with recommendations. Regular follow-ups were documented. In the first three years of life, less than half of the patients underwent audiometry; developmental assessment was performed in 49.3% (A) and 24.8% (B) (p < 0.01). Documentation of CH patient care by pediatric endocrinologists seemed to be established, however, it reflected only a minority of the affected patients. Therefore, comprehensive documentation as an important instrument of quality assurance and evidence-based medicine should be legally enforced and officially funded in order to record, comprehend, and optimize care and outcome in patients with rare diseases such as CH.

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

“…Participation in the benchmarking process as a means of quality management may be one incentive to participate in the registry. Regional networks of accredited centers and primary care pediatricians or an obligation for standardized documentation in specialist centers represent other strategies to improve the registries’ coverage [ 10 ].…”

“…The German national registries for CH and CAH, the “HypoDOK” registry for CH and the CAH registry, were initiated by the Study Group on Quality Management in Paediatric Endocrinology (Arbeitsgemeinschaft für Qualitätssicherung in der Pädiatrischen Endokrinologie [AQUAPE]) in 1997. In the meantime, the quality improvement group is integrated in the German Society for Paediatric Endocrinology and Diabetology (Deutsche Gesellschaft für Kinderendokrinologie und Diabetologie [DGKED]) [ 9 ], [ 10 ], [ 11 ], which continues to take responsibility for the registries.…”

“…The latest European consensus guidelines recommend periodical evaluation of psychomotor development and school progression in all children with CH and additional workup in children with speech delay, attention deficits, and memory or behavioral problems [ 4 ]. The national German guidelines for the management of CH, which are currently under review, recommend that psychomotor development of affected children should be monitored during the first two years of therapy, and before start of school [ 9 ], [ 10 ]. The latest datasets from patients aged more than 4 years in the CH HypoDOK registry comprise IQ test results from 210 patients only.…”

“…Between 2015 and 2019, 147 patients in total were identified in the Austrian newborn screening program [ 18 ]. A recent analysis showed that in the years 2004–2017, the CH registry HypoDOK covers an average of 17.5 % of the patients with confirmed CH detected in the German newborn screening program, and in the years 2015–2019, it covers an average of 10.3 % of the patients with confirmed CH found in the Austrian newborn screening program [ 10 ].…”

“…Further studies analyzed the frequency of sodium chloride supplementation in patients with salt-wasting CAH [ 19 ] and the prevalence of arterial hypertension in pediatric CAH patients [ 20 ]. Recent studies from the HypoDOK CH registry elucidate the long-term follow-up and outcome of patients with CH [ 9 ], help to identify predictors of transient CH [ 21 ], or addressed guideline adherence in patients with CH before and after implementation of the first guideline for management of CH [ 10 ].…”