Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening.
Jolanda C NaafsP H VerkerkE FliersA S P van TrotsenburgN Zwaveling-SoonawalaPublished in: European journal of endocrinology (2020)
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.
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