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A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING.

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اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • المصدر:
      Publisher: Sociedade De Pediatria De Sao Paulo Country of Publication: Brazil NLM ID: 9109353 Publication Model: eCollection Cited Medium: Internet ISSN: 1984-0462 (Electronic) Linking ISSN: 01030582 NLM ISO Abbreviation: Rev Paul Pediatr Subsets: MEDLINE
    • بيانات النشر:
      Publication: 2017- : Sao Paulo : Sociedade De Pediatria De Sao Paulo
      Original Publication: Sao Paulo : Sociedade De Pediatria De Sao Paulo
    • الموضوع:
      Delayed Diagnosis* ; Mutation* ; Neonatal Screening*; Congenital Hypothyroidism/*diagnosis ; Thyrotropin, beta Subunit/*genetics; Adult ; Child ; Congenital Hypothyroidism/genetics ; Female ; Genetic Markers ; Humans ; Infant ; Infant, Newborn ; Male
    • نبذة مختصرة :
      Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family.
      Case Description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isolated CCH in whom the molecular analysis was performed 12 years later and detected a recurrent mutation (c.373delT) in TSHB gene. The parents and sister were carriers of the mutant allele.
      Comments: The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling.
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    • الرقم المعرف:
      0 (Genetic Markers)
      0 (Thyrotropin, beta Subunit)
    • الموضوع:
      Date Created: 20190606 Date Completed: 20200311 Latest Revision: 20200311
    • الموضوع:
      20250114
    • الرقم المعرف:
      PMC6821475
    • الرقم المعرف:
      10.1590/1984-0462/;2019;37;4;00017
    • الرقم المعرف:
      31166470