RecruitingNCT06728735

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

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

Sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Enrollment

350 participants

Start Date

Mar 17, 2021

Study Type

OBSERVATIONAL

Conditions

Congenital Hypothyroidism

Summary

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.

Eligibility

Max Age: 18 Years

Inclusion Criteria5

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.