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Neonatal screening for congenital hypothyroidism in an Italian Centre: a 5-years real-life retrospective study.

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اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • المصدر:
      Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288 (Electronic) Linking ISSN: 17208424 NLM ISO Abbreviation: Ital J Pediatr Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: London : BioMed Central
    • الموضوع:
      Neonatal Screening*; Congenital Hypothyroidism/*blood ; Congenital Hypothyroidism/*epidemiology; Female ; Humans ; Incidence ; Infant, Newborn ; Male ; Retrospective Studies ; Risk Factors ; Sicily/epidemiology
    • نبذة مختصرة :
      Introduction: Congenital hypothyroidism is an endocrine disease with a significant incidence in the general population (1:2000-1:3000 newborns in Italy) and a different geographical distribution, partially explained by endemic iodine deficiency, genetic traits and autoimmune thyroid diseases.
      Objectives: Aims of this study are: to evaluate the incidence of positive neonatal blood spot screening for CH in western Sicily, identified by the screening centre of the Children Hospital "G. Di Cristina", ARNAS, Palermo; to evaluate the impact of a lower TSH cutoff in the neonatal blood spot screening for CH.
      Materials and Methods: The TSH threshold of the neonatal screening was established as ≥6 mU/L of whole blood. We analysed the screening centre data in the period January 2013-April 2018, for a total number of 85.373 babies (45.7% males; 54.3% females).
      Results: 4.082 Babies (4.8%) required a second screening. Among these, 372 (0.44%) were out of range. The diagnosis of congenital hypothyroidism (CH) was confirmed in 182 babies (0.21%). 77/372 newborns (20.7%) with confirmed high TSH levels showed whole blood TSH levels ≥6 - < 7 mU/L. In synthesis, 48.9% of the out of range re-testing had a confirmed diagnosis of CH.
      Conclusion: The reduction of TSH cutoff to 6 mU/L allowed to identify 77/372 neonates (20.7%) with confirmed out of range TSH, otherwise not recruited by the previously employed TSH cutoff.
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    • Contributed Indexing:
      Keywords: Congenital hypothyroidism; Iodine deficiency; Neonatal screening; TSH; Twins
    • الموضوع:
      Date Created: 20210506 Date Completed: 20211115 Latest Revision: 20211115
    • الموضوع:
      20250114
    • الرقم المعرف:
      PMC8097769
    • الرقم المعرف:
      10.1186/s13052-021-01053-0
    • الرقم المعرف:
      33952334