A5041601450- Thyroid Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Neuroscience of respiration and sleep
- Neonatal Health and Biochemistry
- Thyroid Cancer Diagnosis and Treatment
- Neonatal Respiratory Health Research
- Head and Neck Anomalies
- Congenital heart defects research
- RNA modifications and cancer
- Genetic Syndromes and Imprinting
- Birth, Development, and Health
- Congenital Diaphragmatic Hernia Studies
- Genetics and Neurodevelopmental Disorders
- PI3K/AKT/mTOR signaling in cancer
- Sexual Differentiation and Disorders
- Metabolism and Genetic Disorders
- Diabetes and associated disorders
- Erythrocyte Function and Pathophysiology
- Neuroendocrine Tumor Research Advances
- Salivary Gland Tumors Diagnosis and Treatment
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Prenatal Screening and Diagnostics
- interferon and immune responses
- Chemical Analysis and Environmental Impact
- Thyroid and Parathyroid Surgery
IRCCS Ospedale San Raffaele
2001-2025
Vita-Salute San Raffaele University
2014-2023
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2002-2023
Istituti di Ricovero e Cura a Carattere Scientifico
2016-2023
San Raffaele University of Rome
1998-2023
University of Milan
1996-2013
Mylan (Switzerland)
2007
Ospedale Maggiore
1998
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
1998
Torino e-district
1955-1962
Summary Context The guidelines of the National Academy Clinical Biochemistry advocated use low bloodspot TSH (b‐TSH) threshold for newborn screening congenital hypothyroidism (CH). impact generated by application this indication is largely unknown. Objective To determine on CH epidemiology and classification introduction b‐TSH cutoff. Design Retrospective study 629,042 newborns screened with cutoffs 12 (years 1999–2002) or 10 mU/l (2003–2005). Measurements Congenital incidence...
Dual oxidase 2 (DUOX2) is the catalytic core of H(2)O(2) generator crucial for iodination thyroglobulin in thyroid hormone synthesis. DUOX2 deficiency produces congenital hypothyroidism (CH) humans and mice. We recently cloned a novel gene, product which (dual maturation factor 2; DUOXA2) required to express enzymatic activity.Our objective was identify DUOXA2 mutations as cause CH due dyshormonogenesis.Subjects included 11 patients with partial iodine organification defect but negative...
Congenital hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH frequently reported be sporadic and candidate gene variations were found in <10% investigated patients. Here, we characterize involvement 11 genes through systematic Next Generation Sequencing (NGS) analysis. The NGS was performed 177 unrelated patients (94 gland-in-situ; 83 dysgenesis) 3,538 control subjects. Non-synonymous or splicing rare...
In recent years changes in screening strategies for congenital hypothyroidism (CH) led to an increased detection of mild forms CH, associated with eutopic thyroid gland. We aimed determine the clinical evolution CH gland and find out prognostic factors at diagnosis follow-up. retrospectively analyzed a group 84 children treated our institution. They all underwent re-evaluation after age 3, based on function testing l-thyroxine therapy withdrawal, ultrasonography, 123I scintigraphy...
In childhood the traditional diagnostic approach to thyroid nodules consists of clinical, laboratory, and imaging evaluations. A safe accurate procedure is needed promptly identify patients who require surgery. regard usefulness fine needle aspiration biopsy, data in literature concerning children adolescents are scanty. The aim this study was evaluate compare accuracies collected retrospectively a group pediatric with submitted biopsy. Forty-two underwent surgery for nodules, recruited 9...
Germline loss-of-function mutations of TSH receptor (TSHR) gene have been described in families with partial or complete resistance. Large elevations were generally found the patients homozygous compound heterozygous mutations. In this study, we sequenced entire TSHR a series 10 unrelated slight (6.6–14.9 mU/liter) to moderate (24–46 serum TSH, associated definitely normal free thyroid hormone concentrations. Thyroid volume was all patients, except two modest hypoplasia. Autoimmune disease...
Mutations in the DUOX2 gene have been associated with transient or permanent congenital hypothyroidism due to a dyshormonogenic defect.
Over the years lower TSH cutoffs have been adopted in some screening programs for congenital hypothyroidism (CH) worldwide. This has resulted a progressive increase detecting additional mild forms of disease, essentially with normally located and shaped thyroid. However, question whether such CH cases can benefit from detection by newborn early thyroid hormone treatment is still open. The aim this study was to estimate frequency at Italian population babies permanent characterize these terms...
Context:The pathogenesis of congenital hypothyroidism (CH) is still largely unexplained. We previously reported that perturbations the Notch pathway and knockdown ligand jagged1 cause a hypothyroid phenotype in zebrafish. Heterozygous JAG1 variants are known to account for Alagille syndrome type 1 (ALGS1), rare multisystemic developmental disorder characterized by variable expressivity penetrance.
One of the steps in thyroid hormone biosynthesis is generation hydrogen peroxide by dual oxidases (DUOX). Only one study reported mutations DUOX2 gene congenital hypothyroidism (CH) associated with total iodide organification defect (TIOD) homozygosity or partial (PIOD) heterozygous patients. We report genetic and phenotypic characterization a family affected isolated CH. The proband was positive at neonatal TSH screening. High serum low FT4 confirmed diagnosis. At 4 years, high after L-T(4)...
<b><i>Aims:</i></b> To compare the effects of liquid and tablet formulations levothyroxine (L-T4) in 78 newborns with congenital hypothyroidism (CH). <b><i>Methods:</i></b> 39 patients received L-T4 (group A) tablets B). Thyroid-stimulating hormone (TSH) free thyroxine (fT4) were measured dose recorded at onset therapy during first year treatment. Developmental quotient (DQ) was assessed by Griffiths' mental development scales 12 months age....
<h3>AIMS</h3> To define the aetiology of neonatal transient hypothyroidism (NTH) and recommend preventive measures. <h3>METHODS</h3> Maternal perinatal clinical data on use antiseptics, drugs, contrast agents containing iodine were collected from 40 subjects. Thyroid stimulating hormone (TSH), free thyroxine (FT4), (T4), thyroglobulin (TG), TSH receptor antibodies, thyroid peroxidase antibodies urinary measured in random samples. In mothers with known or suspected disorders, TSH, FT4, also...
Heterozygous mutations in the TSH receptor gene (TSHR) are associated with partial resistance, characterized by isolated nonautoimmune hyperthyrotropinemia (NAHT). The prevalence and management of this condition is controversial.Our objective was to investigate clinical impact TSHR alterations a large series pediatric patients NAHT dissect their mechanism action.For prospective multicenter study, data samples were collected units conveyed centralized laboratory for analysis.Subjects included...
<b><i>Background:</i></b> To date, there is no agreement about the frequency or features of thyroid abnormalities in McCune-Albright syndrome (MAS). The aim our study was to detect a cohort MAS children and adolescents give indications for their treatment follow-up. <b><i>Methods:</i></b> In 36 patients, 22 females 14 males, function sonographic were evaluated every 6–12 months. <b><i>Results:</i></b> Three males 1...
It is unclear whether patients with Hashimoto thyroiditis (HT) are predisposed to develop thyroid nodules and/or cancer. The objective of our study was therefore assess the prevalence cancer in HT and look for possible prognostic factors. A retrospective survey 904 children/adolescents (709 females, 195 males) regularly followed nine Italian centers pediatric endocrinology performed. Median period follow-up 4.5 years (1.2 12.8 years). We evaluated free T4, TSH, peroxidase antibody (TPOAb),...
Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature. A mutation (N540K) in the fibroblast growth factor receptor 3 (FGFR3) gene was described some patients with this condition. The aims of study were to identify frequency FGFR3 mutation, define salient clinical and radiological abnormalities affected subjects, verify contribution molecular findings definition hypochondroplasia. Based on most common criteria, we selected 18 a phenotype...
The development of Graves' disease (GD) from Hashimoto's thyroiditis (HT) has sporadically been reported, but no data are available concerning the prevalence this sequence events in GD patients. Our aim was to ascertain HT antecedents history children order assess for first time relative frequency event leading a pediatric population.In 105/109 patients, were documented at presentation. remaining 4 patients had previously exhibited picture with either hypothyroidism or euthyroidism. interval...
Few children have been reported to affected by novel coronavirus disease 2019 (COVID-19); it is unclear whether are less likely be infected or rather display fewer symptoms. We present the case of a 32-day-old boy COVID-19 that presented with an upper air way infection which resolved spontaneously and did not require any therapy. argue in epidemic settings presenting mild symptom potentially attributable should considered contagious until proven otherwise, management must guided clinical conditions.
Abstract Background evaluation of thyroid function in neonates born from mothers affected by autoimmune thyroiditis order to define if a precise follow-up is necessary for these children. The influence maternal peroxidase antibody (TPOAb) and L-thyroxine therapy during pregnancy on neonatal was also investigated. Methods 129 were tested measurement free thyroxine (FT4) stimulating hormone (TSH) 3 th day, 15 day at one month life. TPOAb measured all patients; periodical control performed...