Congenital Hypothyroidism

Currently in France, screening for congenital hypothyroidism (CH) in premature infants is done by a single TSH assay on filter paper. However, European recommendations advise repeating the assay within the first month of life. Our primary objective is to estimate the incidence of CH in preterm infants under 32 weeks of gestational age by applying the European recommendations.

First, to date, no data are available on the thyroid volume of full-term newborns in Italy, making it essential to conduct studies to establish reference values for normality. This allows these values to be correlated with maternal and fetal variability, providing a scientific basis for better understanding thyroid development in the first days of life. Thyroid ultrasound is useful for supplementing newborn screening for congenital hypothyroidism, helping to identify early abnormalities. Furthermore, thyroid volume is a sensitive indicator of iodine intake, essential for assessing the population's iodine nutritional status. It is equally valuable for studying and monitoring the effects of maternal and environmental factors, for which thyroid volume itself serves as a marker. Having normal values allows for a more precise comparison and contextualization of data from children with pathologies, who undergo ultrasound for pathological screening. In summary, these regulatory references improve the diagnosis, prevention, and management of neonatal thyroid dysfunction, contributing to a more informed public health.

Observational, retrospective, prospective, pharmacological, single-centre, non-profit study. The aim is to evaluate, in newborns diagnosed with Congenital Hypothyroidism, the medium- and long-term efficacy and safety of the new formulation of levothyroxine in oral solution, compared to the liquid drop formulation and the tablet formulation. The study will involve male and female patients referred to the Neonatal Screening Centre at the Centre for Endocrine-Metabolic Diseases of the Paediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico di S. Orsola, Italy, who tested positive for Congenital Hypothyroidism.

Retro-prospective, exploratory, single-centre observational study conducted at the Endrocrine-Metabolic Diseases Centre of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy. The primary aim is to assess, by NGS sequencing of a panel of target genes, the frequency and type of variants with potential pathogenic significance in a patient population with congenital hypothyroidism and in situ thyroid, born between January 2003 and December 2023 identified through Neontal Screening at the Regional Centre for Neonatal Screening for Endrocrine-Metabolic Diseases, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy.

A review of the literature has focused primarily on the cognitive and motor development of children with congenital hypothyroidism, but no studies on sensory processing skills have been found. Considering the age range of the groups studied, studies conducted in the early stages of life are rare. This planned study aims to examine the neurological status, motor development, and sensory processing skills of infants aged 6-18 months, considering early synaptogenesis.

The aim of this multicentric, randomised, two-arms and single-blinded clinical trial is to prospectively evaluate OptiThyDose for Congenital hypothyroidism (CH) and Graves' disease (GD).

We propose a multicenter prospective study to define the prevalence and severity score of metabolic syndrome in a prepubertal pediatric cohort with congenital hypothyroidism, compared to a healthy and normal-weight pediatric population. These data will help to define whether hypothyroidism can be considered a risk factor for the metabolic health of the pediatric population. The possible identification of an at-risk metabolic profile will provide useful information to optimize the diagnostic and monitoring pathway for affected children.