Clinical Case Seminar in Pediatric Thyroid Disease

Szinnai, Gabor; Léger, J.; Bauer, Angela; Pearce, Elizabeth N.; Ramos, Helton Estrela; Canalli, Maria Heloisa Büsi da Silva; Onigata, K; Elisei, Rossella; Radetti, Giorgio; Polak, M.P.; Vliet, Guy Van; Deladoëy, Johnny

doi:10.1159/000363166

Cited by 2 publications

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“…Of note, some published studies were not able to detect genetic variation in candidate genes in cases with neonatal-onset HTT (10,(59)(60)(61). Worth mentioning, neonatal HTT may also be found in the context of complex syndromes, like pseudohypoparathyroidism (8,(62)(63)(64). Nowadays, there is no estimate of the frequency of pathogenic variants in neonatal HTT.…”

Section: Is Genetic Variation the Most Common Causation Or Origination Of Persistent Neonatal Htt?mentioning

confidence: 99%

Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review

Chiesa

Tellechea

2021

Front. Endocrinol.

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The purpose of this paper was to systematically summarize the published literature on neonatal isolated hyperthyrotropinemia (HTT), with a focus on prevalence, L-T4 management, re-evaluation of thyroid function during infancy or childhood, etiology including genetic variation, thyroid imaging tests, and developmental outcome. Electronic and manual searches were conducted for relevant publications, and a total of 46 articles were included in this systematic review. The overall prevalence of neonatal HTT was estimated at 0.06%. The occurrence of abnormal imaging tests was found to be higher in the persistent than in the transient condition. A continuous spectrum of thyroid impairment severity can occur because of genetic factors, environmental factors, or a combination of the two. Excessive or insufficient iodine levels were found in 46% and 16% of infants, respectively. Thirty-five different genetic variants have been found in three genes in 37 patients with neonatal HTT of different ethnic backgrounds extracted from studies with variable design. In general, genetic variants reported in the TSHR gene, the most auspicious candidate gene for HTT, may explain the phenotype of the patients. Many practitioners elect to treat infants with HTT to prevent any possible adverse developmental effects. Most patients with thyroid abnormalities and/or carrying monoallelic or biallelic genetic variants have received L-T4 treatment. For all those neonates on treatment with L-T4, it is essential to ensure follow-up until 2 or 3 years of age and to conduct medically supervised trial-off therapy when warranted. TSH levels were found to be elevated following cessation of therapy in 44% of children. Withdrawal of treatment was judged as unsuccessful, and medication was restarted, in 78% of cases. Finally, data extracted from nine studies showed that none of the 94 included patients proved to have a poor developmental outcome (0/94). Among subjects presenting with normal cognitive performance, 82% of cases have received L-T4 therapy. Until now, the precise neurodevelopmental risks posed by mild disease remain uncertain.

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Section: Is Genetic Variation the Most Common Causation Or Origination Of Persistent Neonatal Htt?mentioning

confidence: 99%

Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review

Chiesa

Tellechea

2021

Front. Endocrinol.

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“…Finally, neonatal hyperthyrotropinemia may also be found in the context of complex syndromes, like pseudohypoparathyroidism (57) or brain-lung-thyroid syndrome (58). Data on long-term evolution of neonatal SH are scanty; one study reported that most neonates with mildly elevated TSH levels show progressive normalization of thyroid function, even though in up to 32% mild TSH increase may persist (59).…”

Section: Neonatal Hyperthyrotropinemia and Thyroid Genetic Defectsmentioning

confidence: 99%

MANAGEMENT OF ENDOCRINE DISEASE Subclinical hypothyroidism in children

Salerno

Improda

Capalbo

2020

European Journal of Endocrinology

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Subclinical hypothyroidism (SH) is biochemically defined as serum TSH levels above the upper limit of the reference range in the presence of normal free T4 (FT4) concentrations. While there is a general agreement to treat subjects with serum TSH levels above 10 mU/L, the management of mild form (TSH concentrations between 4.5 and 10 mU/L) is still a matter of debate. In children, mild SH is often a benign and remitting condition and the risk of progression to overt thyroid dysfunction depends on the underlying condition, being higher in the autoimmune forms. The major concern is to establish whether SH in children should always be considered an expression of mild thyroid dysfunction and may deserve treatment. Current data indicate that children with mild SH have normal linear growth, bone health and intellectual outcome. However, slight metabolic abnormalities and subtle deficits in specific cognitive domains have been reported in children with modest elevation of TSH concentration. Although these findings are not sufficient to recommend levothyroxine treatment for all children with mild SH, they indicate the need for regular monitoring to ensure early identification of children who may benefit from treatment. In the meanwhile, the decision to initiate therapy in children with mild SH should be based on individual factors.

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Clinical Case Seminar in Pediatric Thyroid Disease

Cited by 2 publications

References 0 publications

Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review

Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review

MANAGEMENT OF ENDOCRINE DISEASE Subclinical hypothyroidism in children

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