Increased incidence of congenital hypothyroidism in France from 1982 to 2012: a nationwide multicenter analysis

Barry, Yaya; Bonaldi, Christophe; Goulet, V.; Coutant, Régis; Léger, Juliane; Paty, A.-C.; Delmas, Dominique; Cheillan, David; Roussey, M.

doi:10.1016/j.annepidem.2015.11.005

Cited by 76 publications

(56 citation statements)

References 25 publications

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“…by guest on July 10, 2020 www.aappublications.org/news Downloaded from reported an increasing incidence of CHT, which most likely reflects changes in TSH cutoffs. This has been shown in Italy (where the TSH cutoff was changed from 15 to 7 mU/L, resulting in a 26% increase in permanent CHT and a 57% increase in transient CHT 10 ), France, 23 Quebec, 24 Greece, 17 and Serbia. 25 Longitudinal studies in the United States (1978-2005) 1 and New Zealand (1993-2010) 26 have revealed an increase in incidence; however, between 1989 and 2000 in the United States, the number of births of Asian American infants increased by 37%, and the number of births of Hispanic infants increased by 53%.…”

Section: Figurementioning

confidence: 84%

Incidence of Congenital Hypothyroidism Over 37 Years in Ireland

McGrath

Hawkes

McDonnell³

et al. 2018

Pediatrics

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BACKGROUND AND OBJECTIVES: Congenital hypothyroidism (CHT) is one of the most common preventable causes of learning disability. Newborn screening with whole-blood thyroidstimulating hormone measurements was introduced in the Republic of Ireland in 1979 and is coordinated from a single center with an unchanged protocol since its inception. Our objective in this study was to describe the incidence of CHT in the Republic of Ireland over the past 37 years in the context of a complete national population and an unchanged screening protocol. METHODS:The newborn screening records of all individuals who were diagnosed with CHT between 1979 and 2016 were reviewed. Infants with positive screening results had a whole-blood thyroid-stimulating hormone value of ≥15 mU/L at 72 to 120 hours of life; values of 8 to 15 mU/L required a repeat whole-blood screening test.

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Section: Figurementioning

confidence: 84%

Incidence of Congenital Hypothyroidism Over 37 Years in Ireland

McGrath

Hawkes

McDonnell³

et al. 2018

Pediatrics

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Section: Introductionmentioning

confidence: 99%

“…Thyroid dysgenesis (TD) is a feature in 65% of patients with congenital hypothyroidism (CH), the most common neonatal endocrine disorder affecting one in 2,500-3,500 newborns (Deladoëy et al, 2011;Barry et al, 2016). In France, the prevalence of CH due to TD is estimated in 1/5,000 (Barry et al, 2016). TD includes a vast spectrum of developmental thyroid anomalies encompassing athyreosis, thyroid ectopia, hypoplasia of an orthotopic gland, and hemithyroid (Barry et al, 2016;Stoupa et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

TUBB 1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

et al. 2018

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The genetic causes of congenital hypothyroidism due to thyroid dysgenesis (TD) remain largely unknown. We identified three novel TUBB1 gene mutations that co‐segregated with TD in three distinct families leading to 1.1% of TUBB1 mutations in TD study cohort. TUBB1 (Tubulin, Beta 1 Class VI) encodes for a member of the β‐tubulin protein family. TUBB1 gene is expressed in the developing and adult thyroid in humans and mice. All three TUBB1 mutations lead to non‐functional α/β‐tubulin dimers that cannot be incorporated into microtubules. In mice, Tubb1 knock‐out disrupted microtubule integrity by preventing β1‐tubulin incorporation and impaired thyroid migration and thyroid hormone secretion. In addition, TUBB1 mutations caused the formation of macroplatelets and hyperaggregation of human platelets after stimulation by low doses of agonists. Our data highlight unexpected roles for β1‐tubulin in thyroid development and in platelet physiology. Finally, these findings expand the spectrum of the rare paediatric diseases related to mutations in tubulin‐coding genes and provide new insights into the genetic background and mechanisms involved in congenital hypothyroidism and thyroid dysgenesis.

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“…First, many infants with a mild increase of TSH subsequently are diagnosed with overt, permanent CH, many with normally located and shaped thyroid glands (3, 9, 10, 11, 12, 13, 14). It is indisputable that infants with permanent CH benefit from treatment.…”

Section: Introductionmentioning

confidence: 99%

Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?

Lain

Trumpff

Grosse

et al. 2017

European Journal of Endocrinology

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When newborn screening (NBS) for congenital hypothyroidism (CH) using thyroid-stimulating hormone (TSH) as a primary screening test was introduced, typical TSH screening cutoffs were 20–50 U/L of whole blood. Over the years, lowering of TSH cutoffs has contributed to an increased prevalence of detected CH. However, a consensus on the benefit deriving from lowering TSH cutoffs at screening is lacking. The present paper outlines arguments both for and against the lowering of TSH cutoffs at NBS. It includes a review of recently published evidence from Australia, Belgium and Italy. A section focused on economic implications of lowering TSH cutoffs is also provided. One issue that bears further examination is the extent to which mild iodine deficiency at the population level might affect the association of neonatal TSH values with cognitive and developmental outcomes. A debate on TSH cutoffs provides the opportunity to reflect on how to make NBS for CH more effective and to guarantee optimum neurocognitive development and a good quality of life to babies with mild as well as with severe CH. All authors of this debate article agree on the need to establish optimal TSH cutoffs for screening programs in various settings and to ensure the benefits of screening and access to care for newborns worldwide.

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Increased incidence of congenital hypothyroidism in France from 1982 to 2012: a nationwide multicenter analysis

Cited by 76 publications

References 25 publications

Incidence of Congenital Hypothyroidism Over 37 Years in Ireland

Incidence of Congenital Hypothyroidism Over 37 Years in Ireland

TUBB 1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?

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