Infants Diagnosed with Athyreosis on Scintigraphy May Have a Gland Present on Ultrasound and Have Transient Congenital Hypothyroidism

2021 ◽  
pp. 1-8
Author(s):  
Niamh McGrath ◽  
Colin Patrick Hawkes ◽  
Stephanie Ryan ◽  
Philip Mayne ◽  
Nuala Murphy

Scintigraphy using technetium-99m (<sup>99m</sup>Tc) is the gold standard for imaging the thyroid gland in infants with congenital hypothyroidism (CHT) and is the most reliable method of diagnosing an ectopic thyroid gland. One of the limitations of scintigraphy is the possibility that no uptake is detected despite the presence of thyroid tissue, leading to the spurious diagnosis of athyreosis. Thyroid ultrasound is a useful adjunct to detect thyroid tissue in the absence of <sup>99m</sup>Tc uptake. <b><i>Aims:</i></b> We aimed to describe the incidence of sonographically detectable in situ thyroid glands in infants scintigraphically diagnosed with athyreosis using <sup>99m</sup>Tc and to describe the clinical characteristics and natural history in these infants. <b><i>Methods:</i></b> The newborn screening records of all infants diagnosed with CHT between 2007 and 2016 were reviewed. Those diagnosed with CHT and athyreosis confirmed on scintigraphy were invited to attend a thyroid ultrasound. <b><i>Results:</i></b> Of the 488 infants diagnosed with CHT during the study period, 18/73 (24.6%) infants with absent uptake on scintigraphy had thyroid tissue visualised on ultrasound (3 hypoplastic thyroid glands and 15 eutopic glands). The median serum thyroid-stimulating hormone (TSH) concentration at diagnosis was significantly lower than that in infants with confirmed athyreosis (no gland on ultrasound and no uptake on scintigraphy) (74 vs. 270 mU/L), and median free T4 concentration at diagnosis was higher (11.9 vs. 3.9 pmol/L). Six of 10 (60%) infants with no uptake on scintigraphy but a eutopic gland on ultrasound had transient CHT. <b><i>Conclusion:</i></b> Absent uptake on scintigraphy in infants with CHT does not rule out a eutopic gland, especially in infants with less elevated TSH concentrations. Clinically, adding thyroid ultrasound to the diagnostic evaluation of infants who have athyreosis on scintigraphy may avoid committing some infants with presumed athyreosis to lifelong levothyroxine treatment.


2007 ◽  
Vol 92 (4) ◽  
pp. 1451-1457 ◽  
Author(s):  
Yasuhiko Kanou ◽  
Akira Hishinuma ◽  
Katsuhiko Tsunekawa ◽  
Koji Seki ◽  
Yutaka Mizuno ◽  
...  

Abstract Context: Most patients with defective synthesis and/or secretion of thyroglobulin (Tg) present relatively high serum free T3 (FT3) concentrations with disproportionately low free T4 (FT4) resulting in a high FT3/FT4 ratio. The mechanism of this change in FT3/FT4 ratio remains unknown. Objective: We hypothesize that increased type 2 iodothyronine deiodinase (D2) activity in the thyroid gland may explain the higher FT3/FT4 ratio that is frequently observed in patients with abnormal Tg synthesis. Design: We recently identified a compound heterozygous patient (patient A) with a Tg G2356R mutation and one previously described (C1245R) that is known to cause a defect in intracellular transport of Tg. In the current study, after determining the abnormality caused by G2356R, we measured D2 activity as well as its mRNA level in the thyroid gland. We also measured the thyroidal D2 activity in three patients with Tg transport defect and in normal thyroid tissue. Results: Morphological and biochemical analysis of the thyroid gland from patient A, complemented by a pulse-chase experiment, revealed that G2356R produces a defect in intracellular Tg transport. D2 activity but not type 1 deiodinase in thyroid glands of patients with abnormal Tg transport was significantly higher than in normal thyroid glands, whereas D2 mRNA level in patient A was comparable with that in normal thyroid glands. Furthermore, there was a positive correlation between D2 activity and FT3/FT4 ratios. Conclusion: Increased thyroidal D2 activity in the thyroid gland is responsible for the higher FT3/FT4 ratios in patients with defective intracellular Tg transport.



2002 ◽  
Vol 45 (4) ◽  
pp. 177-179 ◽  
Author(s):  
Hüseyin Çaksen ◽  
Ahmet Tutuş ◽  
Selim Kurtoğlu ◽  
Figen Öztürk ◽  
Yüksel Okumuş ◽  
...  

To determine whether low dose ketoconazole (KTZ) has antithyroid action, we studied thyroid function tests in the 13 rats treated with KTZ (20 mg/kg twice daily) for thirty days. Serum triiodothyronine and thyroxine levels were decreased (P <0.05) and serum thyroid-stimulating hormone levels were mildly increased (P >0.05) at the end of treatment. Histopathological analysis of the thyroid glands demonstrated an increase in cylindrical cells in study group, but the epithelial cells were mainly cubical in control group. These findings showed that low dose KTZ had antithyroid effect in rats. The responsible mechanisms may be direct effect of the drug on thyroid gland.



1966 ◽  
Vol 51 (1) ◽  
pp. 15-22 ◽  
Author(s):  
Franz K. Bauer ◽  
Boris Catz

ABSTRACT Eighteen euthyroid patients with progressive malignant exophthalmos, of whom 16 had been treated by other forms of therapy, were treated with large therapeutic doses of radioactive iodine in an effort to ablate their thyroid glands. In four of the patients no functioning thyroid tissue could be demonstrated; in the others thyroid tissue can still be demonstrated with 5 mc doses of 131I preceded by thyrotrophin. In all patients, marked improvement of the infiltrative changes of ophthalmopathy resulted. Proptosis improved but in none of them did it regress completely to normal. The doses of radioactive iodine required to destroy thyroid remnants were much larger than the doses employed in the treatment of hyperthyroidism. It is suggested that the thyroid gland plays an important part in the complex problem of progressive exophthalmos and the presence of LATS, although its precise role remains to be determined.



PEDIATRICS ◽  
1985 ◽  
Vol 76 (5) ◽  
pp. 734-740
Author(s):  
Stephen H. LaFranchi ◽  
Cheryl E. Hanna ◽  
Patricia L. Krainz ◽  
Michael R. Skeels ◽  
Richard S. Miyahira ◽  
...  

To determine the benefit of collecting two routine specimens to test for congenital hypothyroidism, we examined the results of our newborn screening program during the last 9.5 years. The Northwest Regional Screening Program (NWRSP) performs a primary thyroxine test with thyroid-stimulating hormone determinations on the lowest 10% of dried blood filter paper specimens. An initial specimen is obtained in the newborn period, and a routine second specimen is collected at approximately 4 to 6 weeks of age in all infants born in Oregon and 25% of infants born in Idaho, Montana, Alaska, and Nevada. Between May 1975 and October 1984, 182 infants with primary hypothyroidism were detected from 811,917 infants screened, a prevalence rate of 1:4,461. The routine second specimen led to the diagnosis of 19 infants of 484,604 infants screened, a detection rate of 1:25,505. When infants detected by the second screen were compared with those detected by the first screen, they had higher thyroxine and lower thyroidstimulating hormone concentrations on filter paper and serum specimens. When thyroid scanning was used, all but one infant detected by the second screen had some residual thyroid tissue, whereas 35% of infants detected by the first screen had thyroid aplasia. Skeletal maturation was more likely to be normal in infants detected by the second screen. These infants appear to have milder hypothyroidism due to a later age of onset or slower evolution of thyroid failure. At a cost of $31,881 per infant detected by the second screen, the NWRSP found it cost-effective to obtain a routine second specimen.



2021 ◽  
Vol 14 (4) ◽  
pp. e240924
Author(s):  
Preethi Padmanaban ◽  
Eric Nylen ◽  
Kenneth Burman ◽  
Sabyasachi Sen

We report a case of 34-year-old clinically asymptomatic woman who had been followed for 6 years for hyperthyroidism with thyroid stimulating hormone <0.006 uIU/mL, free T4 1.98 ng/mL, free T3 5.3 pg/mL, elevated thyroid stimulating immunoglobulin 1.70 IU/L, thyroid peroxidase antibody 38 IU/mL and thyroglobulin antibody 9.3 IU/mL. Radioiodine thyroid scan showed minimal uptake in both thyroid lobes (24-hour uptake was 0.3%). She subsequently underwent evaluation for lower abdominal pain and menstrual irregularities, which revealed a large left ovarian cyst measuring 15.9 cm × 10.8 cm × 13.2 cm and right-sided ovarian cyst measuring 2.7 cm × 3.3 cm × 3.5 cm. Laparoscopic bilateral ovarian cystectomy was performed and the final pathology revealed struma ovarii of the left ovarian cyst with the entire ovarian tumour made up of benign thyroid tissue. Thyroid function tests performed 3 months after surgical removal of struma ovarii showed euthyroidism. We present a rare case with detailed laboratory and immunological data before and after ovarian extirpation with resolution of hyperthyroidism associated with functional struma ovarii.



2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A957-A957
Author(s):  
Banu Erturk ◽  
Selcuk Dagdelen

Abstract Objective: Incretins are expressed in thyroid tissue but without clearly-known clinical significance in human. The long-term effect of GLP-1 receptor activation on the thyroid is unknown. In the literature, liragludite-related thyroiditis has not been reported yet and here we wanted to draw attention to this association. Case Summary: A 52-year-old woman with type 2 diabetes mellitus presented with thyroid tenderness, tremor and fever. Her lab results were as follows: undetectable TSH, free T4 (FT4) = 2,4 ng/dl (0.93-1.7), free T3 (FT3) = 4.4 pg/mL (2-4.4). Erythrocyte sedimentation rate (ESR) was 60 mm/hour, C-reactive protein (CRP) was 80 mg/L. Thyroid autoantibodies were negative. USG revealed that thyroid gland was in normal localization and the right lobe was 24x22x46 mm and the left lobe was 20x21x45 mm, isthmus thickness was 5 mm. The parenchyma was heterogeneous, coarsely granular, with bilateral patchy hypoechoic areas. All these findings suggested that the patient had subacute thyroiditis. When we examine the etiological factors of subacute thyroiditis in the patient, there was no history of trauma, no previous viral or bacterial illness, contrast agent exposure. But, she had only been using liraglutide for a week. Firstly liraglutide therapy was ceased and than 20 mg prednisolone and 40 mg beta-blocker therapy was initiated. At the 8 weeks’ of cessation, patient had no symptoms. Also thyroid function tests and other laboratory values were all in normal limits. Conclusions: It has been proven by previous studies that liraglutide has several effects on the thyroid gland. Liraglutide therapy might be related to subacute thyroiditis, as well.



2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A929-A930
Author(s):  
Kara A Beliard ◽  
Srinidhi Shyamkumarb ◽  
Mabel Yau ◽  
Cassie Mintz ◽  
Robert Rapaport

Abstract Background: Graves disease (GD) is the most common cause of hyperthyroidism worldwide. The usual age of presentation is between 20-30 years, and it is more common in females. Transient hyperthyroidism does occur in infants born to mothers with GD, however, the novo GD in infants is extremely rare. We are aware of only four cases of GD in children under the age of 2 years old previously reported in the literature, with the youngest being of 18 months. Although rare, the complications can be devastating, so identifying and treating GD in infants is vital. We describe an infant who presented at 12 months of life with poor weight gain. Patient Findings: A 12-month old female patient presented with weight loss, tachycardia, diaphoresis and hypertension. She had a palpable thyroid gland without ocular changes. She was found to have an undetectable Thyroid Stimulating Hormone (TSH) with an elevated free T4 of 2.1 ng/dL (normal 0.80 - 1.50 ng/dL). She was stabilized in the intensive care unit with beta-blocker and methimazole. The diagnosis of GD was subsequently confirmed with an extremely elevated elevated Thyroid Stimulating Immunoglobulins (TSI) titer of 263 Iu/L (normal 0.00-0.55 IU/L), her TSH receptor gene was normal. At 34 months of age, her TSI titer is still elevated at 34 IU/L and she still requires methimazole to maintain a euthyroid state. She is growing and developing appropriately. Conclusion: To our knowledge, this report describes the youngest child to be diagnosed with GD in the English literature. Only four patients between the ages of 18 - 24 months have been described. Autoimmune diseases are rare in infants, the reason for which GD developed at such a young age remains unclear. Clinical signs and symptoms of hyperthyroidism in infants can be subtle and easily missed: increased growth velocity, failure to gain weight, autonomic changes, and irritability. Most patients have an enlarged thyroid gland, and some have ocular changes. The major long-term complications of undiagnosed hyperthyroidism include craniosynostosis and permanent neurocognitive damage. A high index of suspicion is needed for the recognition and prompt treatment of GD in infants, leading to better clinical outcome.



2020 ◽  
Vol 17 (2) ◽  
pp. 187-192
Author(s):  
Anna R. Volkova ◽  
Michael B. Fishman ◽  
Galina V. Semikova

BACKGROUND: The function of the thyroid gland effects on obesity and comorbidities. It has been proven for bariatric surgery to be the most effective in obesity treatment. AIM: to evaluate the dynamics of body weight, thyroid status, leptin and insulin resistance in obese patients after bariatric surgery. MATERIALS AND METHODS: 74 obese patients were observed after bariatric surgery (sleeve gastrectomy 42, gastric bypass - 32); initial body mass index (BMI), thyroid stimulating hormone, free T4, fasting plasma leptin, insulin and glucose were estimated; the insulin resistance index HOMA-IR was calculated. The dynamics of body weight was estimated by BMI and the excess BMI loss (% EBMIL). After 3 years of follow-up, 48 patients were examined. RESULTS: Subclinical hypothyroidism (SH) was detected in 36.5% of patients with high degrees of obesity. A correlation was found between BMI and TSH level (R=0.5; p=0.01). HOMA-IR was increased in most patients with obesity of the II and III degree (4.81.9 ng / ml). In the SH group, the leptin level was significantly higher than in the group with a normal TSH level of 43.07.3 ng / ml and 33.24.6 ng / ml (p=0.004). Among patients with initial SH, spontaneous reduction of TSH levels occurred in 45% patients 3 years after surgery. CONCLUSIONS: Postoperatively, the BMI decrease was associated with the decrease of TSH, leptin and HOMA-IR. The data obtained may reflect the effect of adipose tissue on the functional state of the thyroid gland in patients with high degrees of obesity after bariatric surgery. This seems to be extremely important for maintaining body weight.



2015 ◽  
Vol 28 (9-10) ◽  
Author(s):  
Suzanne Ngo Um Sap ◽  
Paul Koki ◽  
Felicité Nguefack Dongmo ◽  
Louis De Djob ◽  
Annie Tedga ◽  
...  

AbstractCongenital hypothyroidism is a main congenital endocrine disorder, affecting 1 in 4000 births. It is not well described in sub-Saharan countries, and to draw attention to that issue, we decided to describe affected pediatric patients. We retrospectively analyzed the records of eight patients over a period of 6 years. We analyzed clinical sings of hypothyroidism and psychomotor development; hormonal assays and thyroid ultrasound were performed. We included four boys and four girls aged from 3 to 84 months at diagnosis with a median thyroid-stimulating hormone (TSH) level of 156.5 mUI/L. All except one present with a moderate psychomotor delay. Other clinical signs were classical for hypothyroidism. Thyroid ultrasound performed showed a goiter in half of patients, a normal gland in three of them and a hypoplasic gland in the last one, consonant with dyshormonogenesis. We therefore concluded that dyshormonogenesis seems to be more frequent in our context, and this raised the issue of neonatal screening of hypothyroidism in Africa.



2021 ◽  
pp. 1-8
Author(s):  
Kevin Stroek ◽  
Annemieke C. Heijboer ◽  
Marja van Veen-Sijne ◽  
Annet M. Bosch ◽  
Catharina P.B. van der Ploeg ◽  
...  

Introduction: Newborn screening (NBS) for congenital hypothyroidism (CH) in the Netherlands consists of thyroxine (T4), thyroid-stimulating hormone (TSH), and T4-binding globulin (TBG) measurements to detect thyroidal CH and central CH (CH-C). CH-C is detected by T4 or a calculated T4/TBG ratio, which serves as an indirect measure of free T4. TSH and TBG are only measured in the lowest 20 and 5% of daily T4 values, respectively. A recent evaluation of the Dutch NBS for CH showed that the T4 and T4/TBG ratio contribute to the detection of CH-C but also lead to a low positive predictive value (PPV). Dried blood spot (DBS) reference intervals (RIs) are currently unknown and may contribute to improvement of our NBS algorithm. Materials and Methods: RIs of T4, TSH, TBG, and the T4/TBG ratio were determined according to Clinical &amp; Laboratory Standards Institute guidelines in heel puncture cards from routine NBS in both sexes and at the common NBS sampling ages. Scatter plots were used to compare the healthy reference population to previously published data of CH-C patients and false positives. Results: Analyses of 1,670 heel puncture cards showed small differences between subgroups and led to the formulation of total sample DBS RIs for T4 (56–118 nmol/L), TSH (<2.6 mIU/L), TBG (116–271 nmol/L), and the T4/TBG ratio (>20). 46% of false-positive referrals based on T4 alone had a TBG below the RI, indicating preventable referral due to partial TBG deficiency. One case of CH-C also had partial TBG deficiency (TBG 59 and T4 12 nmol/L blood). Discussion/Conclusion: Established DBS RIs provided possibilities to improve the PPV of the Dutch CH NBS algorithm. We conclude that by taking partial TBG deficiency into account, approximately half of T4 false-positive referrals may be prevented while maintaining NBS sensitivity at the current level.



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