Resistance to thyroid hormone (RTH) is a condition caused by a mutation in the thyroid hormone receptor gene. It is rarely reported in individuals with no family history of RTH or in premature infants, and its clinical presentation varies. In our case, a premature infant with no family history of thyroid diseases had a thyroid stimulating hormone level of 85.0 µIU/mL and free thyroxine level of 1.64 ng/dL on a thyroid function test. The patient also presented with clinical signs of hypothyroidism, including difficulties in feeding and weight gain. The patient was treated with levothyroxine; however, only free thyroxine and triiodothyronine levels increased without a decrease in thyroid-stimulating hormone levels. Taken together with thyroid gland hypertrophy observed on a previous ultrasound examination, RTH was suspected and the diagnosis was eventually made based on a genetic test. A de novo mutation in the thyroid hormone receptor β gene in the infant was found that has not been previously reported. Other symptoms included tachycardia and pulmonary hypertension, but gradual improvement in the symptoms was observed after liothyronine administration. This report describes a case involving a premature infant with RTH and a de novo mutation, with no family history of thyroid disease.
Diagnosis ; Goiter ; Humans ; Hypertension, Pulmonary ; Hypertrophy ; Hypothyroidism ; Infant ; Infant, Newborn ; Infant, Premature ; Receptors, Thyroid Hormone ; Tachycardia ; Thyroid Diseases ; Thyroid Function Tests ; Thyroid Gland ; Thyroid Hormone Receptors beta ; Thyroid Hormone Resistance Syndrome ; Thyrotropin ; Thyroxine ; Triiodothyronine ; Ultrasonography ; Weight Gain

Congenital goiter is considered a rare occurrence, and may be related to hypothyroidism, hyperthyroidism, or euthyroidism. In this report, we describe a case of fetal goiter identified in the 34th gestational week in a 41-year-old secundigravida with normal thyroid functions. A conservative approach was followed; the fetal goiter was monitored via ultrasound, which suggested this was a case of hyperthyroidism. After the birth, tests indicated that the newborn was euthyroidic. Consequently, a more detailed study using non-invasive procedures was deemed necessary to discover the precise cause of the fetal goiter during the gestational period.
Adult ; Fetus ; Goiter* ; Humans ; Hyperthyroidism ; Hypothyroidism ; Infant, Newborn ; Magnetic Resonance Imaging ; Parturition ; Prenatal Diagnosis ; Thyroid Gland ; Ultrasonography

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

BACKGROUND/AIMS: Hypothyroidism is reported to contribute to the development of nonalcoholic fatty liver disease (NAFLD). We compared the risk of the development of NAFLD among three groups with different thyroid hormonal statuses (control, subclinical hypothyroidism, and overt hypothyroidism) in a 4-year retrospective cohort of Korean subjects. METHODS: Apparently healthy Korean subjects without NAFLD and aged 20-65 years were recruited (n=18,544) at health checkups performed in 2008. Annual health checkups were applied to the cohort for 4 consecutive years until December 2012. Based on their initial serum-free thyroxine (fT4) and thyroid-stimulating hormone (TSH) levels, they were classified into control, subclinical hypothyroidism (TSH >4.2 mIU/L, normal fT4), and overt hypothyroidism (TSH >4.2 mIU/L, fT4 <0.97 ng/dL) groups. NAFLD was diagnosed on the basis of ultrasonography findings. RESULTS: NAFLD developed in 2,348 of the 18,544 subjects, representing an overall incidence of 12.7%: 12.8%, 11.0%, 12.7% in the control, subclinical hypothyroidism, and overt hypothyroidism groups, respectively. The incidence of NAFLD did not differ significantly with the baseline thyroid hormonal status, even after multivariate adjustment (subclinical hypothyroidism group: hazard ratio [HR]=0.965, 95% confidence interval [CI]=0.814-1.143, P=0.67; overt hypothyroidism group: HR=1.255, 95% CI=0.830-1.899, P=0.28). CONCLUSIONS: Our results suggest that the subclinical and overt types of hypothyroidism are not related to an increased incidence of NAFLD.
Adult ; Aged ; Cohort Studies ; Female ; Follow-Up Studies ; Humans ; Hypothyroidism/*complications/*diagnosis ; Incidence ; Kaplan-Meier Estimate ; Liver/ultrasonography ; Male ; Middle Aged ; Non-alcoholic Fatty Liver Disease/*complications/*diagnosis/epidemiology ; Proportional Hazards Models ; Retrospective Studies ; Risk Factors ; Thyrotropin/analysis ; Thyroxine/analysis

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: Thyroid lobectomy is one of the common operative procedures in patients with benign thyroid nodules. The procedure is relatively feasible, but some patients who receive lobectomies have the complications, such as nerve injury, hypocalcemia, and hypothyroidism. We examined the frequency of hypothyroidism and predictable factor following thyroid lobectomy due to benign thyroid nodules. METHODS: Retrospective analysis was carried out on 212 patients who underwent thyroid lobectomy to benign nodules from January 2005 to May 2010. The risk factors, including sex, age at diagnosis, thyroid function test results, existence of thyroiditis, thyroid volume, and results of the preand post-operation thyroid ultrasounds, were analyzed between euthyroidism and hypothyroidism groups. RESULTS: The rate of hypothyroidism was 17%. In the univariate analysis, age, multiplicity of nodules, thyroiditis, preoperative levels of Tg and TSH, and thyroid volume were significantly predictable factors of hypothyroidism. In the multivariate analysis, the significant factors associated with hypothyroidism were being over 40 years old, having a preoperative TSH of more than 2 mlU/L, and having a small thyroid volume. CONCLUSION: Hypothyroidism following lobectomy is not disasterous complication. We should discuss the possibility of postoperative hypothyroidism carefully with patients before operation, especially when we plan to perform lobectomy on the patients who are over 40, have high TSH levels before surgery, or have a small thyroid volume.
Diagnosis ; Disasters ; Humans ; Hypocalcemia ; Hypothyroidism* ; Multivariate Analysis ; Retrospective Studies ; Risk Factors ; Surgical Procedures, Operative ; Thyroid Function Tests ; Thyroid Gland* ; Thyroid Nodule ; Thyroiditis ; Ultrasonography

PURPOSE: Hashimoto's thyroiditis is an autoimmune disease involving the thyroid gland that slowly leads to hypothyroidism. In some patients, Hashimoto's thyroiditis can lead to distinct nodule formation in the absence of true neoplasm. We reviewed the diagnostic approach and clinical outcome of thyroid surgery conducted on patients with Hashimoto's thyroiditis presenting as distinct thyroid nodules. METHODS: We performed a retrospective review of the medical records of patients who underwent thyroid surgery for thyroid nodules that showed no evidence of true neoplasm other than Hashimoto's thyroiditis in the final histopathologic diagnosis. RESULTS: Between July 2003 and June 2007, 12 patients in whom the final pathologic diagnosis showed nodular Hashimoto's thyroiditis received a hemithyroidectomy. Six of these patients developed postoperative hypothyroidism. Preoperative fine needle aspiration (FNA) suggested the diagnosis of a benign nodule in 2 patients, follicular neoplasm in 2 patients, Hürthle cell neoplasm in 3 patients, and suspicious malignancies in 3 patients. Two patients had non-diagnostic FNA results. Thyroid scans revealed the presence of cold nodules in 4 out of 5 patients. However, thyroid ultrasonography showed features suggesting benign nodules in all 12 patients. CONCLUSION: Because this study only included patients who underwent surgery, the diagnostic accuracy of each modality cannot be determined based on these results. However, the high incidence of postoperative hypothyroidism suggests that surgical decisions should be made with caution when dealing with patients with Hashimoto's thyroiditis. Additionally, the role of ultrasonography in these patients should be evaluated further.
Autoimmune Diseases ; Biopsy, Fine-Needle ; Diagnosis ; Humans ; Hypothyroidism ; Incidence ; Medical Records ; Retrospective Studies ; Thyroid Gland* ; Thyroid Nodule* ; Thyroidectomy* ; Thyroiditis* ; Ultrasonography

Thyroid hemiagenesis is considered to be a rare congenital anomaly, but its incidence is propabley underestimated because the diagnosis is usually incidental. The left lobe is absent four times as often as the right and women are about three times more likely to have this developmental defect. Many of these patients are hyperthyroid or medical attention. We present the case of a 14-year-old women with right thyroid hemiagenesis associated without other thyroid disorders. The diagnosis of hemiagenesis was established by isotope imaging and thyroid ultrasound. In most of the clinical reports on thyroid hemiagenesis, an association with other thyroid disorders was found such as hyperthyroidism, multinodular goitre, hypothyroidism, benign adenama, Graves' disease, acute and subacute thyroiditis, and carcinoma. Even if morphology and function of thyroid gland is normal on diagnosis, a follow-up survey should be recommended.
Adolescent ; Diagnosis ; Female ; Follow-Up Studies ; Graves Disease ; Humans ; Hyperthyroidism ; Hypothyroidism ; Incidence ; Thyroid Gland* ; Thyroiditis, Subacute ; Ultrasonography

Thyroid hemiagenesis is considered to be a rare congenital anomaly, but its incidence is propabley underestimated because the diagnosis is usually incidental. The left lobe is absent four times as often as the right and women are about three times more likely to have this developmental defect. Many of these patients are hyperthyroid or medical attention. We present the case of a 14-year-old women with right thyroid hemiagenesis associated without other thyroid disorders. The diagnosis of hemiagenesis was established by isotope imaging and thyroid ultrasound. In most of the clinical reports on thyroid hemiagenesis, an association with other thyroid disorders was found such as hyperthyroidism, multinodular goitre, hypothyroidism, benign adenama, Graves' disease, acute and subacute thyroiditis, and carcinoma. Even if morphology and function of thyroid gland is normal on diagnosis, a follow-up survey should be recommended.
Adolescent ; Diagnosis ; Female ; Follow-Up Studies ; Graves Disease ; Humans ; Hyperthyroidism ; Hypothyroidism ; Incidence ; Thyroid Gland* ; Thyroiditis, Subacute ; 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