Down Syndrome with Thyroid Dysfunction Detected by Neonatal Screening for Congenital Hypothyroidism

Harada, Shohei; Ichihara, Nobutsune; Fukui, Kenji; Okuno, Akimasa

doi:10.1297/cpe.4.115

Cited by 5 publications

(11 citation statements)

References 14 publications

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“…CH is classified into CH requiring continuous treatment; and transient and subclinical CH (definitions given below) ( 1 , 6 , 8 , 9 , 10 , 11 , 12 ). However, it can be difficult to differentiate the two types because transient CH may involve a morphological or genetic abnormality of the thyroid gland ( 13 , 14 , 15 , 16 , 17 , 18 ).…”

Section: Definition Of Congenital Hypothyroidismmentioning

confidence: 99%

“…3) Transfer of inhibiting antibodies from the maternal body: TSH may be inhibited due to transfer of TSH receptor-binding antibody (TSBAb) from mothers with thyroid disease ( 9 , 14 , 21 , 22 ). The action of TSBAb continues for 3 to 6 mo after birth.…”

Section: Definition Of Congenital Hypothyroidismmentioning

confidence: 99%

“…Harada et al . conducted mass screening in about 570,000 neonates for 13 yr from 1981 to 1994 in Hokkaido and found one case of transient CH due to transfer of maternal TSBAb ( 14 ). In a study in Niigata from 2002 to March 2010, 4 subjects had transient CH due to maternal TSBAb, and the incidence was 1/40,000 ( 22 ).…”

Section: Definition Of Congenital Hypothyroidismmentioning

confidence: 99%

“…4) Low birth weight infant: Low birth weight infants frequently have transient CH ( 1 , 6 , 10 , 23 , 24 , 25 ). More details on low birth weight infants are given in other sections.…”

Section: Definition Of Congenital Hypothyroidismmentioning

confidence: 99%

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Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision)

Nagasaki

Minamitani

Anzo

et al. 2015

Clin Pediatr Endocrinol

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Purpose of developing the guidelines: Mass screening for congenital hypothyroidism started in 1979 in Japan, and the prognosis for intelligence has been improved by early diagnosis and treatment. The incidence was about 1/4000 of the birth population, but it has increased due to diagnosis of subclinical congenital hypothyroidism. The disease requires continuous treatment, and specialized medical facilities should make a differential diagnosis and treat subjects who are positive in mass screening to avoid unnecessary treatment. The Guidelines for Mass Screening of Congenital Hypothyroidism (1998 version) were developed by the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology in 1998. Subsequently, new findings on prognosis and problems in the adult phase have emerged. Based on these new findings, the 1998 guidelines were revised in the current document (hereinafter referred to as the Guidelines). Target disease/conditions: Primary congenital hypothyroidism. Users of the Guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, physicians referring patients to pediatric practitioners, general physicians, laboratory technicians in charge of mass screening, and patients.

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Section: Definition Of Congenital Hypothyroidismmentioning

confidence: 99%

Section: Definition Of Congenital Hypothyroidismmentioning

confidence: 99%

Section: Definition Of Congenital Hypothyroidismmentioning

confidence: 99%

“…4) Low birth weight infant: Low birth weight infants frequently have transient CH ( 1 , 6 , 10 , 23 , 24 , 25 ). More details on low birth weight infants are given in other sections.…”

Section: Definition Of Congenital Hypothyroidismmentioning

confidence: 99%

See 2 more Smart Citations

Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision)

Nagasaki

Minamitani

Anzo

et al. 2015

Clin Pediatr Endocrinol

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“…However, there was an exaggerated response to the TRH test in group 2A. These findings indicate that mild hypothyroidism was present in group 2A ( 5 ). Thus, the responses to the TRH test at re-evaluation performed at 3 to 4 yr of age were similar to the responses to the TRH test seen during the neonatal period.…”

Section: Discussionmentioning

confidence: 65%

Retrospective Analysis of Infants Designated as Positive on Mass-Screening for Congenital Hypothyroidism at Kagoshima University

Tamada

Mizota

Hizukuri

et al. 2005

Clin Pediatr Endocrinol

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Mass-screening for congenital hypothyroidism has identified cases of mild hypothyroidism, transient hypothyroidism, and transient hyperthyrotropinemia as well as typical hypothyroidism. In this paper, we examine the clinical data of the cases found positive in the screening test at our hospital. From 1989 to 1999 there were 72 patients with positive screening tests who started levothyroxine sodium (l-T4; Thyradin-S) as supplement therapy. At the age of 3 to 4 yr the patients were re-evaluated to determine whether treatment should be continued. Thyroid scintigraphies were done at the same time. We divided these cases into 4 groups. Those in group 1A started l-T4 in early infancy without a TRH test because of obvious clinical evidence of hypothyroidism, and treatment was continued after re-evaluation (n=37). Those in group 1B also started treatment in early infancy without a TRH test, but treatment was discontinued after re-evaluation (n=20). Patients in group 2A started l-T4 after evaluation by a TRH test and treatment was continued after re-evaluation (n=14), while those in group 2B started treatment after a TRH test, but after re-evaluation, treatment was discontinued (n=1). In group 2A, only a low dose of l-T4 was needed, and a slightly elevated TSH and slightly decreased free T4 (FT4) were observed after the drug washout period. However, these patients had an exaggerated response to the TRH test at re-evaluation. These findings indicate that this group, forming not a small part of whole screening-positive subjects, had mild hypothyroidism. Such patients require careful follow-up and repeated evaluation to determine whether treatment should be continued.

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