Incidence of congenital hypothyroidism in the city of Uberaba/Minas Gerais and etiological evaluation of the affected subjects

Palhares, Heloísa Marcelina da Cunha; Silva, Lilian Carla; Sato, Luciene Mayumi; Lara, Beatriz Hallal Jorge; Miranzi, Sybele de Souza Castro; Silva, Adriana de Paula; Borges, Maria de Fátima

doi:10.1590/s0004-27302012000500005

Cited by 4 publications

(9 citation statements)

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“…Some doctors advise parents that, at some point, the drug will be discontinued and the etiology of CH will be investigated (6,7). In some cases, this information generates a degree of anxiety and an indeterminate diagnosis can lead to difficulties in the relationship between doctor and parents, who also inquire about treatment duration.…”

Section: Discussionmentioning

confidence: 99%

“…In clinical practice, the institution of L-thyroxine treatment in a timely manner was a breakthrough of the screening programs and, until recently, there were no resources for the study of CH etiology, considered a research subject limited to only a few centers of excellence and this is not the case in many Brazilian states (3)(4)(5)(6)(7).…”

Section: Discussionmentioning

confidence: 99%

“…Thyroid scintigraphy, considered the "gold standard" for the gland identification, could be performed in the neonatal period when treatment has not been started yet, but would require prompt availability of a Nuclear Medicine Service, only available in certain cities (2). Most often, it is carried out much later in life, after medication withdrawal for at least a month (6).…”

Section: Discussionmentioning

confidence: 99%

“…The diagnosis of CH through screening programs has greatly contributed to the start of treatment within an adequate time frame and the etiological diagnosis has been sought by these programs aiming at genetic counseling (3)(4)(5)(6)(7).…”

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confidence: 99%

“…Due to the need to initiate treatment within the first month after birth aiming to preserve the child's neuronal development, the investigation of CH etiology is usually delayed until the age of 3, when treatment withdrawal for one month does not result in much impairment or, in many cases, is not performed due to the lack of resources in the region where the child resides or due to limited mobility to the capital cities, which are the centers of screening programs (6,7).…”

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confidence: 99%

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Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism

Borges

Sedassari

et al. 2017

Arch. Endocrinol. Metab.

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Objectives: To describe the findings of thyroid ultrasonography (T-US), its contribution to diagnose congenital hypothyroidism (CH) and the best time to perform it. Subjects and methods: Forty-four patients with CH were invited to undergo T-US and 41 accepted. Age ranged from 2 months to 45 years; 23 patients were females. All were treated with L-thyroxine; 16 had previously undergone scintigraphy and 30 had previous T-US, which were compared to current ones. Results: At the current T-US, the thyroid gland was not visualized in its normal topography in 10 patients (24.5%); 31 T-US showed topic thyroid, 17 with normal or increased volume due to probable dyshormonogenesis, 13 cases of hypoplasia and one case of left-lobe hemiagenesis. One patient had decreased volume due to central hypothyroidism. Scintigraphy scans performed 3-4 years earlier showed 100% agreement with current results. Comparisons with previous T-US showed concordant results regarding thyroid location, but a decrease in current volume was observed in eight due to the use of L-thyroxine, calling the diagnosis of hypoplasia into question. Conclusions: The role of T-US goes beyond complementing scintigraphy results. It allows inferring the etiology of CH, but it must be performed in the first months of life. An accurate diagnosis of CH will be attained with molecular study and the T-US can guide this early assessment, without therapy withdrawal. Arch Endocrinol Metab. 2017;61(5):432-7

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

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Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism

Borges

Sedassari

et al. 2017

Arch. Endocrinol. Metab.

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Características clínicas de los niños con hipotiroidismo congénito en Santander, Colombia

Acevedo-Rojas

Mendoza-Rojas

2019

Rev. Fac. Med.

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Introducción. El hipotiroidismo congénito (HC) es la primera causa de retraso mental prevenible. El inicio temprano de su tratamiento con la hormona tiroidea garantiza un desarrollo neurológico normal.Objetivos. Describir la etiología y las manifestaciones clínicas del HC y relacionar la discapacidad cognitiva con el inicio del tratamiento en una serie de casos de niños con esta enfermedad en el departamento de Santander, Colombia.Materiales y métodos. Estudio descriptivo a través de serie de casos. La información se recolectó de historias clínicas de pacientes con HC diagnosticado entre 1999 y 2013 y atendidos por el Servicio de Endocrinología Pediátrica del Hospital Universitario de Santander Empresa Social del Estado. Se analizaron 15 variables en el programa Microsoft Excel 2013.Resultados. Se recolectaron 59 casos, con una relación sexo femenino/masculino de 1.7:1. En el 49.2% de los casos se realizó tamizaje neonatal. Las disgenesias tiroideas fueron la etiología más común; la ictericia neonatal prolongada, la hernia umbilical y la hipotonía fueron las características más frecuentes. El retraso mental se presentó en el 64.4% de los casos.Conclusiones. El tamizaje neonatal es la mejor estrategia para captar la mayoría de los casos e iniciar tratamiento oportuno. En Colombia, la ictericia neonatal prolongada debe alertar un posible caso de HC.

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Sonographic evaluation of children with congenital hypothyroidism

et al. 2015

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ObjectiveTo establish benchmarks and study some sonographic characteristics of the thyroid gland in a group of euthyroid children aged up to 5 years as compared with age-matched children with congenital hypothyroidism.Materials and MethodsThirty-six children (17 female and 19 male) aged between 2 months and 5 years were divided into two groups – 23 euthyroid children and 13 children with congenital hypothyroidism – and were called to undergo ultrasonography.ResultsIn the group of euthyroid children (n = 23), mean total volume of the thyroid gland was 1.12 mL (minimum, 0.39 mL; maximum, 2.72 mL); a homogeneous gland was found in 17 children (73.91%) and 6 children (26.08%) had a heterogeneous gland. In the group of children with congenital hypothyroidism (n = 13), mean total volume of the thyroid gland was 2.73 mL (minimum, 0.20 mL; maximum, 11.00 mL). As regards thyroid location, 3 patients (23.07%) had ectopic thyroid, and 10 (69.23%) had topic thyroid, and out of the latter, 5 had a homogeneous gland (50%) and 5, a heterogeneous gland (50%). In the group with congenital hypothyroidism, 6 (46.15%) children had etiological diagnosis of dyshormoniogenesis, 3 (23.07%), of ectopic thyroid, and 4 (30.76%), of thyroid hypoplasia.ConclusionThyroid ultrasonography is a noninvasive imaging method, widely available, easy to perform and for these reasons could, and should, be performed at any time, including at birth, with no preparation or treatment discontinuation, to aid in the early etiological definition of congenital hypothyroidism.

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Incidence of congenital hypothyroidism in the city of Uberaba/Minas Gerais and etiological evaluation of the affected subjects

Abstract: We concluded that both the incidence of CH and of dyshormonogenesis as the main causes of CH were increased in the investigated region, but molecular studies are necessary for a better definition of etiology.

Cited by 4 publications

References 18 publications

Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism

Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism

Características clínicas de los niños con hipotiroidismo congénito en Santander, Colombia

Sonographic evaluation of children with congenital hypothyroidism

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