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Bourdet K.,Endocrinology Service and Research Center
Hormone Research in Paediatrics | Year: 2015

Background: Genetic cases of isolated central diabetes insipidus are rare, are mostly due to dominant AVP mutations and have a delayed onset of symptoms. Only 3 consanguineous pedigrees with a recessive form have been published. Case Report: A boy with a negative family history presented polyuria and failure to thrive in the first months of life and was diagnosed with central diabetes insipidus. Magnetic resonance imaging showed a normal posterior pituitary signal. A molecular genetic analysis of the AVP gene showed that he had inherited a previously reported mutation from his Lebanese father and a novel A>G transition in the splice acceptor site of intron 1 (IVS1-2A>G) from his French-Canadian mother. Replacement therapy resulted in the immediate disappearance of symptoms and in weight gain. Conclusions: The early polyuria in recessive central diabetes insipidus contrasts with the delayed presentation in patients with monoallelic AVP mutations. This diagnosis needs to be considered in infants with very early onset of polyuria-polydipsia and no brain malformation, even if there is no consanguinity and regardless of whether the posterior pituitary is visible or not on imaging. In addition to informing family counseling, making a molecular diagnosis eliminates the need for repeated imaging studies. © 2015 S. Karger AG, Basel Copyright © 2015, S. Karger AG. All rights reserved. Source

Saavedra J.,Endocrinology Service and Research Center | Deladoey J.,Endocrinology Service and Research Center | Saint-Vil D.,Center Hospitalier University Sainte Justine | Boivin Y.,University of Montreal | And 4 more authors.
Hormone Research in Paediatrics | Year: 2011

Background/Aims: To assess whether the presence of certain findings on thyroid ultrasonography (US) correctly diagnoses malignancy even when a fine-needle aspiration biopsy (FNAB) suggests a benign lesion. Methods: We reviewed the charts of 35 children and adolescents with a thyroid nodule who had had an US and a FNAB, and for whom final pathology was available. Results: The global accuracy of FNAB was 83%, with a sensitivity of 75% and a specificity of 94%. 14 FNABs suggested malignancy (40%), only 1 of which was a false positive (7%). By contrast, 5 of the 21 FNABs suggesting benign lesions were false negatives (24%). These 5 cases had US findings suggestive of malignancy. When FNAB suggested a benign lesion, US had a good sensitivity (80%) but a poor specificity and accuracy (50 and 57%, respectively); its negative predictive value was 90% and its positive predictive value 36%. Conclusions: US complements FNAB in the evaluation of thyroid nodules in children. A more aggressive approach is warranted in children with a thyroid nodule and a benign FNAB if US findings suggest malignancy. Copyright © 2011 S. Karger AG, Basel. Source

Deladoey J.,Endocrinology Service and Research Center | Deladoey J.,University of Montreal | Van Vliet G.,Endocrinology Service and Research Center | Van Vliet G.,University of Montreal
Expert Review of Endocrinology and Metabolism | Year: 2014

Screening increases prevalence estimates for most diseases and congenital hypothyroidism (CH) is no exception, affecting one in 6700 children by clinical ascertainment and one in 3500 in the first surveys of systematic biochemical screening of newborns. Importantly, screening has resulted in the disappearance of intellectual disability due to CH. A further doubling in prevalence estimates has recently been reported, mostly accounted for by changes in screening algorithms; accordingly, the prevalence of overt CH has remained stable. Population-based registries that distinguish confirmed diagnoses from positive screening results have proved invaluable. These registries should include: etiology of CH based on imaging, ideally technetium scintigraphy; ethnicity; socio-educational data; input from the screening laboratories and pediatric endocrinologists. Efforts should now be directed at increasing the proportion of the world's newborns screened for overt CH (currently 30%) and at determining if neonates with mild hyperthyrotropinemia also benefit from early treatment. © 2014 Informa UK, Ltd. Source

Grob F.,Endocrinology Service and Research Center | Grob F.,University of Santiago de Chile | Deladoey J.,Endocrinology Service and Research Center | Legault L.,University of Montreal | And 4 more authors.
Hormone Research in Paediatrics | Year: 2014

In adults, autonomous adenomas of the thyroid causing hyperthyroidism are relatively common and are most often due to somatic mutations that increase the constitutive activity of the thyroid-stimulating hormone receptor (TSHR). By contrast, autonomous adenomas in hyperthyroid children are exceptional and reports of their clinical and molecular characteristics are few. We reviewed papers describing 16 autonomous adenomas due to a somatic mutation activating the TSHR and diagnosed in patients younger than 18 years, to which we added two of our own unpublished observations in a 4- and 8-year-old with the same TSHR mutation (c.CAG>CAC; p.Asp633His). This revealed that (a) autonomous adenomas occur more often in the right lobe (11 of 14 with available information) and the associated hyperthyroidism tends to be more severe, possibly reflecting the richer vascular supply of the right thyroid lobe, and (b) mutations found in benign adenomas in children have been associated with cancer in adults, suggesting that malignancy requires a second 'hit' at a later age. © 2014 S. Karger AG, Basel. Source

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