Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid: Preliminary Data from the Regional Neonatal Screening Centre in Bologna

What this Trial Is About

Researchers are conducting a retro-prospective, exploratory observational study at the Endocrine-Metabolic Diseases Centre of the Pediatrics Unit in Bologna, Italy. The study focuses on children diagnosed with congenital hypothyroidism who have a normally positioned thyroid (in situ thyroid), born between January 2003 and December 2023. The main goal is to use next-generation sequencing (NGS) of selected genes to find the frequency and types of gene variants that might cause this condition. The study involves collecting and analyzing medical records, including hormonal and clinical data, from these patients. Those diagnosed with permanent congenital hypothyroidism after re-evaluation will undergo NGS molecular testing to identify genetic causes. Researchers also aim to explore associations between genetic findings and clinical features, estimate how common this thyroid condition is among all congenital hypothyroid cases, and identify factors predicting whether the hypothyroidism is temporary or permanent. Participants are monitored through their medical history, physical exams, thyroid ultrasounds, and laboratory tests such as TSH and free T4 levels. Genetic testing by NGS is performed about one year after diagnosis if permanent hypothyroidism is confirmed. The study includes long-term follow-up of at least 36 months to assess clinical and hormonal progression, with data collected retrospectively and prospectively. Participation continues until December 2027, providing comprehensive insight into the condition's genetic and clinical aspects.

Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid