The purpose of this study was to retrospectively evaluate the use of sonography as the primary imaging modality for congenital hypothyroidism (CH).
From our regional registry, we reviewed the cases of patients for whom either sonography or (99m)Tc-pertechnetate scanning was performed for CH between 2003 and 2010. Ultrasound studies were reviewed for presence, size, echotexture, vascularity, and location of the thyroid gland. Technetium-99m-pertechnetate scans were evaluated for the presence and location of the thyroid gland. The ultrasound studies were compared with the (99m)Tc-pertechnetate scans. We assessed the use of ultrasound as the primary imaging modality for the evaluation of CH.
We identified the cases of 124 patients (89 girls, 35 boys). Ultrasound studies were available for 121 patients, and (99m)Tc-pertechnetate studies for 62 patients. Three patients were examined only by (99m)Tc-pertechnetate scanning. The final imaging results were normal location with normal size or diffuse enlargement of the thyroid gland (n = 47), sublingual thyroid gland (n = 49), agenesis (n = 18), hypoplasia (n = 8), and hemiagenesis (n = 2). Compared with (99m)Tc-pertechnetate scanning, ultrasound had high (100%) specificity and low (44%) sensitivity for detection of sublingual thyroid gland.
We suggest using ultrasound as the primary imaging modality for guiding the treatment of children with CH, potentially decreasing radiation exposure and cost.
[Show abstract][Hide abstract] ABSTRACT: O hipotireoidismo congênito (HC) é o distúrbio endócrino congênito mais frequente, com incidência variando de 1:2.000 a 1:4.000 crianças nascidas vivas e uma das principais causas de retardo mental que pode ser prevenida. Os Programas de Triagem Neonatal para a doença permitem a identificação precoce dos afetados e seu tratamento de modo a evitar as complicações da falta do hormônio. A maioria dos casos de hipotireoidismo congênito é decorrente de disgenesias tireoidianas (85%), entre elas a ectopia, hipoplasia ou agenesia tireoidianas, e os demais resultam de defeitos de síntese hormonal. As crianças afetadas (> 95%) geralmente não apresentam sintomas sugestivos da doença ao nascimento. Os sintomas e sinais mais comuns são: icterícia neonatal prolongada, choro rouco, letargia, movimentos lentos, constipação, macroglossia, hérnia umbilical, fontanelas amplas, hipotonia e pele seca. Várias estratégias são utilizadas para a triagem do HC. No Brasil, esta é obrigatória por lei e geralmente é feita com a dosagem de TSH em sangue seco coletado do calcanhar. A idade recomendada para sua realização é após as 48 horas de vida até o quarto dia. A confirmação diagnóstica é obrigatória com as dosagens de TSH e T4 livre ou T4 total.
[Show abstract][Hide abstract] ABSTRACT: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, with an incidence of 1:2,000 to 1:4,000 live births and it is a leading preventable mental retardation. Neonatal Screening Programs allow early identification of the disease and the adequate treatment of affected children can avoid the complications related to deprivation of the hormone. Most cases of primary congenital hypothyroidism (85%) are due to thyroid dysgenesis (ectopia, hypoplasia or agenesis) while the remaining result from defects in hormone synthesis. Affected children (> 95%) usually have no symptoms suggesting the disease at birth. The most frequent symptoms and signs are prolonged neonatal jaundice, hoarse cry, lethargy, slow movements, constipation, macroglossia, umbilical hernia, large fontanelle, hypotonia and dry skin. Around the world, various strategies are used for the screening of the CH. In Brazil, screening for CH is mandatory by law and usually done by serum TSH in dried blood collected from the heel. The recommended age for performing this test is after 48 hours of life until the 4th day. Diagnostic confirmation is required dosing TSH and free T4 or total T4 in serum.
Arquivos brasileiros de endocrinologia e metabologia 04/2013; 57(3):184-192. · 0.84 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Color Doppler Ultrasounds (CDU) and Thyroid Scanning (TS) have much improved in recent years and offer a likely diagnosis of the disorder and its main subtypes. This especially applies when diagnosing permanent or transient causes of congenital hypothyroidism (CH), where dual imaging has proven to be more informative than single scanning. Though both isotopes have acceptable performances, the use of 123I appears more advisable, since it more accurately identifies the various aetiologies of CH and probably has better dosimetric characteristics than 99mTc. Detailed dual imaging patterns are presented in connection with most of the underlying mechanisms explaining CH, thyroid dysgenesis (75%) and dyshormonogenesis (20%). Imaging of thyroid autoimmunity, of immunogenic thyrotoxicosis and of thyroid autonomy, is helped by CDU but most often requires a quantified 123I-TS (molecular imaging). We finally show the interest of CDU to sort suspicious nodule and present the new TIRADS scoring system.
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