Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening.

Conclusion: Many patients with central CH have neonatal health problems, especially MPHD patients. Despite hospital admission of two-thirds of patients, almost none were diagnosed clinically, but only after the notification of an abnormal screening result was received. This indicates that central CH, especially if isolated, is an easily missed clinical diagnosis.
PMID: 33107432 [PubMed - in process]

Source: European Journal of Endocrinology - October 28, 2020 Category: Endocrinology Authors: Naafs JC, Verkerk PH, Fliers E, van Trotsenburg ASP, Zwaveling-Soonawala N Tags: Eur J Endocrinol Source Type: research