Literature DB >> 19944295

Update: newborn screening for endocrinopathies.

Kenneth A Pass1, Eurico Carmago Neto.   

Abstract

Congenital hypothyroidism and congenital adrenal hyperplasia are included in many newborn screening (NBS) panels worldwide and in all state-sponsored programs in the United States. Both conditions meet the fundamental prerequisites for NBS: high incidence in the population; biomarkers in the dried blood specimen that are easily detected; and, effective therapies to lessen, if not prevent, the sequelae of late or no treatment. In this review, the history of NBS is discussed for these 2 conditions. The technologies and protocols used in their detection, and related subjects such as genetics, and treatment and outcomes, are also discussed.

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Year:  2009        PMID: 19944295     DOI: 10.1016/j.ecl.2009.08.005

Source DB:  PubMed          Journal:  Endocrinol Metab Clin North Am        ISSN: 0889-8529            Impact factor:   4.741


  8 in total

1.  Parental management of adrenal crisis in children with congenital adrenal hyperplasia.

Authors:  Louise Fleming; Kathleen Knafl; George Knafl; Marcia Van Riper
Journal:  J Spec Pediatr Nurs       Date:  2017-08-03       Impact factor: 1.260

2.  Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states.

Authors:  Patrice K Held; Stuart K Shapira; Cynthia F Hinton; Elizabeth Jones; W Harry Hannon; Jelili Ojodu
Journal:  Mol Genet Metab       Date:  2015-08-12       Impact factor: 4.797

3.  Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India.

Authors:  Jyotsna Verma; Papai Roy; Divya C Thomas; Geetu Jhingan; Azad Singh; Sunita Bijarnia-Mahay; Ishwar C Verma
Journal:  J Pediatr Intensive Care       Date:  2019-10-14

4.  Performance metrics after changes in screening protocol for congenital hypothyroidism.

Authors:  Steven J Korzeniewski; Violanda Grigorescu; Mary Kleyn; William Young; Gretchen L Birbeck; David Todem; Roberto Romero; Tinnakorn Chaiworapongsa; Nigel Paneth
Journal:  Pediatrics       Date:  2012-10-08       Impact factor: 7.124

5.  Improving the Speed and Selectivity of Newborn Screening Using Ion Mobility Spectrometry-Mass Spectrometry.

Authors:  James N Dodds; Erin S Baker
Journal:  Anal Chem       Date:  2021-12-01       Impact factor: 6.986

Review 6.  Update on some aspects of neonatal thyroid disease.

Authors:  Tamar Simpser; Robert Rapaport
Journal:  J Clin Res Pediatr Endocrinol       Date:  2010-08-01

7.  Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems.

Authors:  Š Stangler Herodež; L Fijavž; B Zagradišnik; N Kokalj Vokač
Journal:  Balkan J Med Genet       Date:  2016-07-09       Impact factor: 0.519

8.  Primary Thyroid Stimulating Hormone Screening for Congenital Hypothyroidism in King Abdullah Hospital, Bisha, Saudi Arabia.

Authors:  Mohammed Abbas; Eltayeb Tayrab; Abedelmonium Elmakki; Jowayria Tayrab; Abdullah Al-Shahrani; Elhadi Miskeen; Karimeldin Salih
Journal:  Cureus       Date:  2020-03-02
  8 in total

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