ESPEYB19 3. Thyroid Congenital hypothyroidism (3 abstracts)
3.6. Cognitive and white matter microstructure development in congenital hypothyroidism and familial thyroid disorders
Perri K , De Mori L , Tortora D , Calevo MG , Allegri AEM , Napoli F , Patti G , Fava D , Crocco M , Schiavone M , Casalini E , Severino M , Rossi A , Di Iorgi N , Gastaldi R & Maghnie M
J Clin Endocrinol Metab. 2021 Sep 27;106(10):e3990-e4006. doi: 10.1210/clinem/dgab412. PMID: 34105732
Brief Summary: This observational monocenter study analyzed cognitive scores of children with permanent (n=28, with athyreosis, ectopy or hypoplasia) vs. transient (n=11, with thyroid gland in situ) congenital hypothyroidism (CH) compared to healthy children (‘controls’, n=39). The authors found differences in cognitive outcomes and brain MRI white matter microstructure of children with permanent CH despite early diagnosis and treatment with LT4 according to recommended guidelines [1].
The primary aim of neonatal screening and early high dose treatment of newborns with CH is to protect their neurocognitive outcomes. This study provides for the first-time detailed data on neurocognitive outcome in combination with radiological analysis of white matter microstructure in a representative cohort of patients with permanent or transient CH, compared to healthy children. CH was diagnosed at a median age of 12.5 (5-32) days and 21.5 (7-35) days for permanent vs. transient CH, respectively. The following items of neurocognitive testing were lower in patients with permanent CH: processing speed, index, sustained visual attention, reading speed, written calculation, and numerical knowledge. In all CH patients, neurocognitive outcome was lower in the presence of either family history of thyroid disease or a mother with Hashimoto thyroiditis. Anomalies of white matter microstructure investigated by brain MRI at the age of 9 years correlated with neurocognitive deficits.
This important study provides quantitative radiological data on brain microstructure in combination with detailed neurocognitive data on children with permanent or transient CH confirming data from a smaller study [1]. These results stress the importance of thyroid hormones for normal brain development and indicate that even early treatment of permanent severe CH might not completely prevent neurocognitive deficits later in life. Finally, they identified an important clinical, yet unrecognized risk factor for impaired neurocognitive outcome: familial and maternal thyroid disease. Whether optimal control of thyroid function before and during pregnancy in affected mothers could prevent this effect, remains to be shown in larger studies.
Reference: 1. White matter microstructural abnormalities in children with severe congenital hypothyroidism. Cooper HE, Kaden E, Halliday LF, Bamiou DE, Mankad K, Peters C, Clark CA. Neuroimage Clin. 2019;24:101980. doi: 10.1016/j.nicl.2019.101980. Epub 2019 Aug 10. PMID: 31446316.
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ESPE Yearbook of Paediatric Endocrinology
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