Disorders of the Thyroid in the Newborn and Infant

Fisher, Delbert A.; Grueters, Annette

doi:10.1016/b978-141604090-3.50011-9

Cited by 62 publications

(67 citation statements)

References 136 publications

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“…Several genes have been identified and mu tations have been recognized as causes of CH (1,2). Dyshormonogenesis is usually transmitted in an au tosomal recessive pattern (3).…”

Section: Introductionmentioning

confidence: 99%

“…Dyshormonogenesis may occur due to defects in any level of synthesis or secretion of thyroid hormo nes, such as iodide transport, iodide organification, synthesis of TG, and iodotyrosine deiodination. The most common defect affects thyroperoxidase (TPO) activity, leading to abnormalities in iodide oxidation and organification, and interfering with its binding to the tyrosine molecule (2).…”

Section: Introductionmentioning

confidence: 99%

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Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil

Ramos

Filho

Demartini

et al. 2012

Arq Bras Endocrinol Metab

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OBJECTIVE: To characterize the phenotype of patients with congenital hypothyroidism (CH) due to dyshormonogenesis, and to hypothesize on the degree of genetic defect. SUBJECTS AND METHODS: Patients with dyshormonogenesis were subdivided into G1 (radioactive iodine uptake, RAIU > 15%; n = 62) and G2 (RAIU < 15%; n = 32). Thyroglobulin (TG) was measured in all patients; perchlorate discharge test (PDT) was performed in G1; and saliva-to-plasma radioiodine ratio (I- S/P) in G2. RESULTS: Levels of TSH, TT4, and FT4 before treatment and upon diagnosis confirmation were significantly different in both groups, but not between groups. In G1, 27 patients developed goiter; 17 had positive PDT (14%-71% discharge), 11 had TG < 2.5 ng/dL (one with high TSH), and one developed thyroid carcinoma. In G2, four patients developed goiter, and three had low I- S/P. CONCLUSION: These data suggest an iodide organification defect in 17 cases; an iodide transport defect (NIS defect) in three, probable TSH resistance in 10, and a TG synthesis defect in two cases.

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“…Several genes have been identified and mu tations have been recognized as causes of CH (1,2). Dyshormonogenesis is usually transmitted in an au tosomal recessive pattern (3).…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil

Ramos

Filho

Demartini

et al. 2012

Arq Bras Endocrinol Metab

View full text Add to dashboard Cite

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“…The percentage of transient CH within the entire CH group revealed in our study showed an increment from 5.5% of all CH to 29.2%, indicating the important contribution of the lower TSH cutoff level in detecting additional cases of transient CH. This rate is much higher than the expected rate of 5-10% reported for iodine-sufficient populations [21,22]. A significant increase in the transient CH from none in the first period (30 mIU/L whole blood cutoff) to 35% of all CH patients in the last period (9 mIU/L whole blood cutoff), was recently reported in central Serbia with 30 years of experience in thyroid screening [17].…”

Section: Discussionmentioning

confidence: 66%

Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism

Anastasovska

Kočova²

2017

IJNS

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Lower cutoff levels in screening programs have led to an increase in the proportion of detected cases of transient hypothyroidism, leading to an increase in the overall prevalence of primary congenital hypothyroidism (CH) in several countries. We have performed a retrospective evaluation on the data from 251,008 (96.72%) neonates screened for thyroid-stimulating hormone (TSH) level in dried blood spot specimens taken 48 h after birth, between 2002 and 2015, using the DELFIA method. A TSH value of 15 mIU/L whole blood was used as the cutoff point until 2010 and 10 mIU/L thereafter. Primary CH was detected in 127 newborns (1/1976) of which 81.1% had permanent and 18.9% had transient CH. The prevalence of primary CH increased from 1/2489 before 2010 to 1/1585 thereafter (p = 0.131). However, the prevalence of permanent CH increased only slightly (p = 0.922), while the transient CH prevalence showed an 8-fold increase after lowering the TSH cutoff level (p < 0.001). In cases of permanent CH, we observed a lower prevalence of thyroid dysgenesis (82.7% vs. 66.7%) and a higher prevalence of a normal in situ thyroid gland (17.3% vs. 33.3%), for the period with a lower TSH cutoff value. Our findings support the impact of a lower TSH cutoff on the increasing prevalence of congenital hypothyroidism.

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“…Very low birth weight (<1500 g), prematurity (<37 weeks gestation), immaturity of thyroidal iodine organification, exposure to excess iodine (e.g., use of iodinated disinfectants or contrast agents), and gene Follow-up duration (months) 27.7 ± 12.9 3-51 mutation may also contribute to transient CH. The reason for the hypothyroidism cannot be determined in some cases (9,(15)(16)(17). A history of maternal antithyroid drug use was present in 2.6% (n = 3) of our patients and all were diagnosed to have transient CH.…”

Section: Discussionmentioning

confidence: 84%

The evaluation of transient hypothyroidism in patients diagnosedwith congenital hypothyroidism

Kendırcı¹,

Aycan²,

Sağsak³

et al. 2015

Turk J Med Sci

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Children diagnosed with congenital hypothyroidism who started treatment among the newborn babies who were referred to the Dr. Sami Ulus Women and Children's Health Training and Research Hospital Pediatric Endocrinology Background/aim: Congenital hypothyroidism (CH) is divided into two groups as 'permanent' and 'transient' . We aimed to determine the rate of transient and permanent congenital hypothyroidism of the newborns referred to our clinic. Materials and methods:Of the newborns who were referred to our clinic from the neonatal screening program, those who were diagnosed with CH and started treatment were included in the study. The treatments of the patients whose required daily treatment dose was reduced to under 1 µg/kg were terminated and those who were followed monthly and whose fT 4 and thyroid-stimulating hormone (TSH) levels were normal at least 3 times without treatment were considered to have transient hypothyroidism.Results: Of the 256 newborns referred to our clinic from the neonatal screening program, 114 (44.5%) were diagnosed with CH. Of the CH patients, 70% (n = 58) were evaluated to have permanent and 30% (n = 25) transient hypothyroidism. Neonatal and serum TSH levels and treatment doses were found to be significantly lower in the transient hypothyroidism patients. Conclusion:Initial measurements of the serum TSH level and the required doses of L-thyroxine therapy for maintaining normal thyroid hormone levels, growth, and development may have a predictive role for differentiating permanent forms of CH from transient forms.

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Disorders of the Thyroid in the Newborn and Infant

Cited by 62 publications

References 136 publications

Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil

Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil

Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism

The evaluation of transient hypothyroidism in patients diagnosedwith congenital hypothyroidism

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