Accès ouvert
2025
article
OpenAlex
Stefan Groeneweg, Ferdy S. van Geest, Mariano Martín, Mafalda Dias et autres
Predicting and quantifying phenotypic consequences of genetic variants in rare disorders is a major challenge, particularly pertinent for 'actionable' genes such as thyroid hormone transporter MCT8 (encoded by the X-linked SLC16A2 gene), where loss-of-function (LoF) variants cause a rare neurodevelopmental and (treatable) …
nl, ar, es, us, de, tr, gb, ca, ro, it, cl, fr, au, in, ch, hu, pl, cz, br
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Accès ouvert
2025
article
OpenAlex
Marta Arrigoni, Nitash Zwaveling‐Soonawala, STEPHEN H. LAFRANCHI, Christiaan F. Mooij
Background: Congenital hypothyroidism (CH) is a preventable cause of neurodevelopmental delay in children, detectable by newborn screening (NBS) programs for CH. Since NBS for CH was started in Canada in 1974, numerous countries have successfully implemented this public health strategy. However, in …
it, nl, us
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2022
article
OpenAlex
Susan Rogers Rose, Ari J. Wassner, Kupper A. Wintergerst, Nana-Hawa Yayah-Jones et autres
Untreated congenital hypothyroidism (CH) leads to intellectual disabilities. Newborn screening (NBS) for CH should be performed in all infants. Prompt diagnosis by NBS leading to early and adequate treatment results in grossly normal neurocognitive outcomes in adulthood. However, NBS for hypothyroidism is …
us, au
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2022
article
OpenAlex
Susan Rogers Rose, Ari J. Wassner, Kupper A. Wintergerst, Nana-Hawa Yayah-Jones et autres
ABSTRACT: Untreated congenital hypothyroidism (CH) leads to intellectual disabilities. Prompt diagnosis by newborn screening (NBS) leading to early and adequate treatment results in grossly normal neurocognitive outcomes in adulthood. However, NBS for hypothyroidism is not yet established in all countries globally. Seventy …
au, us
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2022
article
OpenAlex
Kara J. Connelly, Julie J. Park, STEPHEN H. LAFRANCHI
The history of the thyroid dates from 2697 BCE when the "Yellow Emperor" Hung Ti described the use of seaweed to treat goiter. The English name "thyroid" was coined by Thomas Wharton in 1656 from the Greek word for a shield. Bernard …
us
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Accès ouvert
2021
article
OpenAlex
STEPHEN H. LAFRANCHI
Maternal thyroid hormone crosses the placenta to the fetus beginning in the first trimester, likely playing an important role in fetal development. The fetal thyroid gland begins to produce thyroid hormone in the second trimester, with fetal serum T4 levels gradually rising …
us
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Accès ouvert
2020
article
OpenAlex
Samuel Refetoff, Θεοδώρα Παππά, Meredith K. Williams, Maria Gisele Matheus et autres
Background: Mutations of the thyroid hormone (TH)-specific cell membrane transporter, monocarboxylate transporter 8 ( MCT8 ), produce an X-chromosome-linked syndrome of TH deficiency in the brain and excess in peripheral tissues. The clinical consequences include brain hypothyroidism causing severe psychoneuromotor abnormalities (no …
us, es
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2020
article
OpenAlex
Nazaneen Eshragh, Luong Van Doan, Kara J. Connelly, Sara Denniston et autres
BACKGROUND/AIMS: Screening newborns for congenital adrenal hyperplasia (CAH) is problematic owing to the dynamic changes in serum 17-hydroxyprogesterone (17-OHP) levels following birth. Our study objectives were to determine the accuracy of screening, severity of CAH, and biochemical and clinical outcomes of cases …
us
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2019
article
OpenAlex
T. Livett, STEPHEN H. LAFRANCHI
PURPOSE OF REVIEW: Congenital hypothyroidism is a common worldwide condition. Due in part to increasingly widespread newborn screening, the number of patients with this diagnosis is increasing. In this review, we discuss currently available imaging techniques and the benefits and limitations of …
us
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2018
article
OpenAlex
STEPHEN H. LAFRANCHI
The incidence of congenital hypothyroidism diagnosed after clinical presentation is 1:7000 to 1:10 000.1 As detected by newborn screening (NBS) programs starting in the mid-1970s, the incidence increased to 1:3800 to 1:4000,2 presumably reflecting detection of all cases. Then, between 2002 and …
us
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Accès ouvert
2018
article
OpenAlex
STEPHEN H. LAFRANCHI
This interview explores current controversies in the management of hypothyroidism in children. Newborn screening programs have allowed early detection and treatment of babies with congenital hypothyroidism, but some programs do not detect cases with delayed thyroid-stimulating hormone (TSH) elevation and most do …
us
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Accès ouvert
2018
book-chapter
OpenAlex
Lisa D. Madison, STEPHEN H. LAFRANCHI
Non-thyroidal illness is the term used to describe the changes in thyroid hormone and thyroid-stimulating hormone (TSH) with acute illness not caused by an intrinsic abnormality of thyroid function. In children, non-thyroidal illness is most commonly seen in acutely ill patients admitted …
us
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