Thyroid imaging is indicated to evaluate congenital hypothyroidism during newborn screening or in cases of a palpable thyroid mass in children and adolescents. This pictorial essay reviews the ultrasonography (US) of thyroid diseases in children and adolescents, including normal thyroid gland development, imaging features of congenital thyroid disorders (dysgenesis, [aplasia, ectopy, hypoplasia], dyshormonogenesis, transient hypothyroidism, thyroglossal duct cyst), diffuse thyroid disease (Grave's disease, Hashimoto's thyroiditis, and suppurative thyroiditis), and thyroid nodules. The primary imaging modalities for evaluating thyroid diseases are US and radionuclide scintigraphy. Additionally, US can be used to guide aspiration of detected nodules.
Adolescent ; Child ; Congenital Hypothyroidism/diagnosis/*ultrasonography ; Female ; Graves Disease/diagnosis/ultrasonography ; Hashimoto Disease/diagnosis/ultrasonography ; Humans ; Hypothyroidism/diagnosis/*ultrasonography ; Infant, Newborn ; Male ; Thyroid Dysgenesis/diagnosis/ultrasonography ; Thyroid Nodule/embryology/*ultrasonography ; Thyroiditis/diagnosis/*ultrasonography

PURPOSE: This study aimed to assess the characteristics of thyroid nodules among infants diagnosed with congenital hypothyroidism. METHODS: A retrospective study of 660 infants (374 males, 286 females) diagnosed with congenital hypothyroidism was carried out at the Pediatric Endocrine Clinic in Soonchunhyang University Hospital, Korea, between May 2003 and February 2013. The average age at diagnosis was 1.16+/-1.68 months. RESULTS: Of the 28 patients (4.2%) with thyroid nodules, 17 (2.6%) had cystic thyroid nodules and 11 (1.6%) had solid thyroid nodules. There were no significant differences in gender or age between congenital hypothyroidism patients who hadthyroid nodules and those who did not. All nodules were asymptomatic. The average age at diagnosis of congenital hypothyroidism with nodules was 1.42+/-1.39 months. All detected nodules measured less than 1 cm in diameter. Twenty-two of the 28 infants (78.6%) had only one nodule, while multiple nodules were found in 6 infants (21.4%). Of the 28 infants diagnosed with nodules, 16 underwent thyroid ultrasonography during follow-up and 8 of them (50%) showed no signs of nodules at thyroid ultrasonography. CONCLUSION: The prevalence of thyroid nodules in infants with congenital hypothyroidism was 4.2%. Most thyroid nodules were small in size and benign, disappearing during follow-up observation. We therefore conclude that thyroid nodules in infants with congenital hypothyroidism can simply be observed and do not require direct treatment.
Congenital Hypothyroidism* ; Diagnosis ; Follow-Up Studies ; Humans ; Infant* ; Korea ; Male ; Prevalence ; Retrospective Studies ; Thyroid Gland* ; Thyroid Nodule* ; Ultrasonography

PURPOSE: Biochemical confirmation of congenital hypothyroidism takes about 10 days, which may result in a delay in diagnosis. The delay could be reduced if a faster method of investigation such as knee radiograph is used. The aim of this study is to assess the value of plain radiography of the knee in providing supportive evidence for the diagnosis of congenital hypothyroidism. METHODS: Neonates with a screening TSH over 20microunit/mL or free T4 under 0.85ng/dL were referred for further investigation during period of 1992-1998. We included 116 patients whose results were all available. Diagnosis was confirmed by measuring serum TSH, T4, free T4 by radioimmunoassay, radioisotope scan and ultrasonography of the thyroid. Radiography of the knee was obtained and ossification center sizes were measured. RESULTS: Among 116 neonates, 31 were normal and congenital hypothyroisism was confirmed in 85 neonates. There was a statistically significant difference between the controls and the patients in regards to both biochemical data and knee epiphyseal ossification center size. In the congenital hypothyroidism group, there were a significant difference in biochemical data and knee epiphyseal ossification center size according to the diagnosis, and significant correlation between biochemical data and knee ossification center size, especially with serum T4 and combined mean epiphyseal diameter(r=0.56, P<0.01). In the patient group, simple regression equation was made between biochemical data and knee ossification center size. Combined mean epiphyseal diameter(mm) was 0.544 T4+4.161, combined epiphyseal surface area(mm2) was 2.940 T4+14.283. If T4 is below 7 microgram/dL, combined mean epiphyseal diameter is below 8mm and surface area is below 34mm2. CONCLUSION: In neonates with abnormal thyroid screening, knee radiograph showing a combined mean epiphyseal diameter of 8mm or less and surface area of 34mm2 or less suggests congenital hypothyroidism prior to biochemical confirmation, requiring thyroxine treatment.
Congenital Hypothyroidism* ; Diagnosis ; Epiphyses* ; Humans ; Infant, Newborn* ; Knee* ; Mass Screening ; Radiography ; Radioimmunoassay ; Thyroid Function Tests* ; Thyroid Gland* ; Thyroxine ; Ultrasonography

We report a case of prenatal diagnosis of fetal congenital goiter at 31weeks of gestation by ultrasonogram and fetal hypothyroidism confirmed at birth as thyroid function test by umbilical cord blood sampling. Maternal Graves' disease and the drugs used to treat hyperthyroidism in pregnant women can affect the fetus, causing hyperthyroidism or hypothyroidism and goiter. Fetal hypothyroidism may be caused by transplacental passage of either maternal thyrotropic-binding inhibitory immunoglobulin(TBII) antibodies or maternal treatment with propylthiouracil(PTU). Untreated fetal hypothyroidism may result in mental retardation, perceptual-motor, visual-spatial, and language developmental problems. In this article fetal thyroid function was not assessed by cordocentesis, but fetal congenital goiter was detected ultrasound. Ultrasound should be used to detect fetal goiter from 20 weeks onward. Fetal goiter should resolve when maternal PTU treatment is decreased. We have diagnosed fetal hypothyroidism in utero by ultrasonography. Significance of in utero management of fetal hypothyroidism is discussed.
Antibodies ; Congenital Hypothyroidism ; Cordocentesis ; Female ; Fetal Blood ; Fetus ; Goiter* ; Graves Disease ; Humans ; Hyperthyroidism* ; Hypothyroidism ; Intellectual Disability ; Language Development ; Mothers* ; Parturition ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis* ; Thyroid Function Tests ; Thyroid Gland ; Ultrasonography

PURPOSE:The project of the neonatal mass screening test for inborn errors of metabolism are just at the beginning in Korea and there was a few reports about the overall incidence and subtypes of congenital hypothyroidism. METHODS:In this study, we analysed the 97 cases of newborns with hyperthyrotropinemia who were detected by neonatal screening test to identify the incidence and early clinical manifestations of each subtypes of congenital hypothyroidism. Thyroid function were measured by thyrotropin(TSH) level, T4, T3, Free T4, Free T3, thyroglobulin, T3 resin uptake, TBII, TBG in serum, thyroid ultrasonography and 99mTc thyroid scan. We reanalysed the thyroid functions 1 week after discontinuance of L-thyroxine treatment for 1 year. RESULTS: 1) The time of neonatal screening test were between 3 and 7 days after birth in 46 cases(47.4%) and 8 and 14 days after birth in 35 cases(36.1%). Two cases (2.1%) were done neonatal screening test at the age of 2 days old. 2) The major cause of thyroid disorders were primary hypothyroidism in 45 cases of the total due to thyroid aplasia(7 cases), thyroid hypoplasia(17 cases), ectopic thyroid gland(12 cases) and dyshormonogenesis(9 cases). Other causes of thyroid disorders were TBG deficiency(11 cases), TBG dysfuction(1 case), transient hyperthyrotropinemia(28 cases) and transient hypothyroidism(12 cases). 3) Serum level of thyrotropin(TSH) at diagnosis were 223.5+/-229.6microU/ml in thyroid aplasia, 41.6+/-42.9microU/ml in thyroid hypoplasia, 52.4+/-55.6microU/ml in ectopic thyroid gland. TSH levels were significantly high in thyroid aplasia. T4 levels in thyroid aplasia are 1.7+/-2.0microg/dl and this is significantly lower than other types of thyroid disorders. T3 levels were within normal range except in thyroid aplasia and TBG deficiency. 4) Prolongation of physiologic jaundice was the most common clinical manifestation(33.3%) in patients with primary hypothyroidism and macroglossia, hypothermia, umbilical hernia and cold skin were the next commom clinical manifestations in order to present. 5) Osseous development was normal in 57 cases(82.6%) out of 69 cases who accomplished roentgenographic examination of knees. Only 12 cases(17.4%) showed retardation of osseous development, but there was no significant differences between types of thyroid disorders. 6) Most of the newborn(93.3%) with primary hypothyroidism started to treatment within 8 weeks of age. 7) Initial dosage of L-thyroxine was 10microg/kg/day and decreased 6 to 12 months after treatment. 8) There was significantly decreased thyroid uptake of 99mTc after 1 year follow-up in 5 cases of dyshormonogenesis. 9) The serum TSH levels returned to normal ranges within 6 month after treatment in transient hypothyroidism and transient hyperthyrotropinemia. CONCLUSIONS:Special attention should be paid to transient hyperthyrotropinemia and transient hypothyroidism because many of the congenital thyroid disorders showed transient type and it is necessary to establish the diagnostic guideline to early detect these transient types of congenital thyroid disorders.
Congenital Hypothyroidism ; Diagnosis ; Follow-Up Studies ; Hernia, Umbilical ; Humans ; Hypothermia ; Hypothyroidism ; Incidence ; Infant, Newborn ; Jaundice ; Knee ; Korea ; Macroglossia ; Mass Screening ; Metabolism, Inborn Errors ; Neonatal Screening* ; Parturition ; Reference Values ; Skin ; Thyroglobulin ; Thyroid Dysgenesis ; Thyroid Gland* ; Thyroxine ; Ultrasonography