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ey0017.4-4 | Important for clinical practice | ESPEYB17

4.4. Cognitive profiles and brain volume are affected in patients with Silver-Russell syndrome

G Patti , L De Mori , D Tortora , M Severino , M Calevo , S Russo , F Napoli , L Confalonieri , M Schiavone , HF Thiabat , E Casalini , G Morana , A Rossi , LA Ramenghi , M Maghnie , N Di Iorgi

To read the full abstract: J Clin Endocrinol Metab, April 2020, 105(4):e1478e1488SilverRussell syndrome (SRS) is a rare condition associated with pre and postnatal growth retardation. The most common causes of SRS are 11p15 ICR1 loss of methylation (LOM) and maternal uniparental disomy of chromosome 7 (mUPD7). Almost all patients with SRS have a history of intrauterine growth retardation (IUGR) and may be born small for gestational a...

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ey0019.3-6 | Congenital hypothyroidism | ESPEYB19

3.6. Cognitive and white matter microstructure development in congenital hypothyroidism and familial thyroid disorders

K Perri , Mori L De , D Tortora , MG Calevo , AEM Allegri , F Napoli , G Patti , D Fava , M Crocco , M Schiavone , E Casalini , M Severino , A Rossi , Iorgi N Di , R Gastaldi , M Maghnie

J Clin Endocrinol Metab. 2021 Sep 27;106(10):e3990-e4006. doi: 10.1210/clinem/dgab412. PMID: 34105732Brief 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&#1...

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ESPE Yearbook of Paediatric Endocrinology

4.4. Cognitive profiles and brain volume are affected in patients with Silver-Russell syndrome

3.6. Cognitive and white matter microstructure development in congenital hypothyroidism and familial thyroid disorders

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