Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid
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- Who runs it
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
- Trial code
- NCT06728735
- Record updated
- 12 March 2026
- Original description
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.Read full original descriptionShow less
Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid: Preliminary Data in Patients Followed at the Regional Neonatal Screening Centre for Endrocrine-Metabolic Disease in Bologna
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.
Inclusion: Patients born in Emilia-Romagna region, Italy, between January 2003 and December 2023; Patients screened at the Regional Neonatal Screening Centre for Endrocrine-Metabolic Diseases, IRCCS Azienda Ospedaliero-Universitaria of Bologna, Italy, and recalled for suspected congenital hypothyroidism; Confirmed diagnosis of congenital hypothyroidism and in situ thyroid; Hormonal and clinical follow-up of at least 36 months at Centre for Endrocrine-Metabolic Diseases, IRCCS Azienda Ospedaliero-Universitaria of Bologna, Italy; Obtaining informed consent from parents/legal guardians of paediatric patients.
Exclusion: Patients with hypothyroidism associated with chromosomal syndromes.