ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2021;106:e1231–e1239. doi: 10.1210/clinem/dgaa901.

The results of this study are a robust argument to implement neonatal screening for central congenital hypothyroidism (CCH) worldwide. Only few countries, such as the Netherlands, screen for CCH. Neurodevelopmental outcome data are scarce for CCH compared to primary congenital hypothyroidism (PCH) not only because of the lack of widely established screening but also due to lower incidence (CCH 1:16,000 vs. PCH 1:2500-1:3000) [1].

Naafs et al. present a large cohort of well phenotyped patients with CCH, all detected by neonatal screening and treated early [2]. They compared full scale intelligence quotient (FSIQ) in patients with isolated CCH (iCCH, n=35), CCH in the context of multiple pituitary hormone deficiencies (MPHD, n=52) and patient siblings (n=52). They found no significant difference in FSIQ between iCCH patients and siblings. However, patients with CCH in the context of MPHD, compared to iCCH and siblings, showed a significantly lower mean FSIQ (-7.5, and -7.9 points, respectively), most pronounced in the subgroup of performance IQ.

So far, data on neurodevelopmental outcome in clinically detected and late treated CCH and MPHD patients are lacking for comparison. But the cost-effectiveness of neonatal screening for CCH has already been shown more than a decade ago also in the Netherlands [1].

Reference: 1. Lanting CI, van Tijn DA, Loeber JG, Vulsma T, de Vijlder JJ, Verkerk PH. Clinical effectiveness and cost-effectiveness of the use of the thyroxine/thyroxine-binding globulin ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening program. Pediatrics. 2005;116:168–73. doi: 10.1542/peds.2004-2162.2. Naafs JC, Verkerk PH, Fliers E, van Trotsenburg ASP, Zwaveling-Soonawala N. Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening. Eur J Endocrinol. 2020;183:627–636. doi: 10.1530/EJE-20-0833.