Screening of and therapeutic effect on familial hypothyroidism in neonates

doi:10.3877/cma.j.issn.1674-0785.2019.11.002

Abstract

Abstract:

Objective

To explore the clinical manifestations, laboratory findings, treatments, and prognosis of familial hypothyroidism in Xuzhou.

Methods

Data of neonatal heel blood thyroid stimulating hormone (TSH) tested by time-resolved fluoroimmunoassay from July 2003 to December 2018 were retrospectively analyzed. The cases with positive screening tests were examined further for serum thyroid function indicators by chemiluminescence immunoassay. The clinical data, treatment, and prognosis were analyzed in the patients with familial hypothyroidism.

Results

In the past 15 years, a total of 1 658 780 live births were screened, of which 63 belonging to 32 multiplex families were diagnosed with familial hypothyroidism, with a prevalence of 1/26 330. There were 58 cases of familial hypothyroidism with early treatment and regular follow-up, of which 1 had familial short stature, and the remaining 57 were in the normal range of physical and intellectual levels at the last follow-up. Among the 56 patients with familial hypothyroidism who were followed for 2 years or more, 23 (41.1%) had transient hypothyroidism and 33 (58.9%) had permanent hypothyroidism.

Conclusion

Newborn screening is an effective measure for early diagnosis of familial hypothyroidism. Physical and mental development is usually normal after early replacement therapy. Genetic factors may be the possible molecular mechanism of familial hypothyroidism.

Key words: Congenital hypothyroidism, Familial, Neonatal screening, Intelligence development

Xiuli Wang, Jiao Wu, Danyan Yang, Jijie Liu, Shiguo Liu. Screening of and therapeutic effect on familial hypothyroidism in neonates[J]. Chinese Journal of Clinicians(Electronic Edition), 2019, 13(11): 806-810.

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