Thyroid Exam Research Articles

7443 Severe Hypothyroidism and Adrenal Insufficiency in a 27-Year-Old Male with Klippel-Feil Syndrome: A Case Report

Abstract Disclosure: S. Almardini: None. F. Haddadin: None. L. Aoun: None. F. Saliba: None. J. Zaidan: None. Background: Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by improper segmentation of the cervical vertebrae. The classical clinical triad consists of short neck, low posterior hairline, and limited neck mobility. It is uncommonly associated with endocrine abnormalities. We present a rare case of KFS with severe primary hypothyroidism. Case Presentation: A 27-year-old male with KFS presented for evaluation of profound fatigue and lack of energy. His vital signs revealed a heart rate of 50 and a borderline low blood pressure. On physical exam patient was noted to be lethargic and icteric, thyroid exam was limited due to patient short neck. Labs were consistent with severe hypothyroidism TSH of 825 mIU/L, total T4 <0.4 mcg/dL, low 8 AM cortisol of 4.3 mcg/dL, elevated LDL at 333 mg/dL, elevated liver enzymes AST 491 U/L, ALT 294 U/L, neutropenia with WBC 2.69 x10^3/uL 20% neutrophils and anemia Hb 12 g/dL. TPO and thyroglobulin antibodies were positive at 149.0 and 109.0 IU/mL respectively, 21 hydroxylase antibodies were negative. Thyroid Ultrasound showed small and diffusely heterogenous thyroid. Patient was started on Levothyroxine 125 mcg daily and hydrocortisone with improvement in his symptoms as well as normalization of his lipid panel, liver enzymes and neutropenia. The patient was continued on levothyroxine 125 mcg, hydrocortisone was tapered and repeat cortisol levels were normal. Discussion: This case demonstrates an unusual association between KFS and hypothyroidism secondary to Hashimoto thyroiditis, likely representing an incidental finding rather than a causative relationship. The cervical spinal abnormalities and short neck characteristic of KFS could potentially lead to compression of neurological and vascular structures in the neck. However, this is unlikely to fully explain our patient's hypothyroidism. There are few published case reports of KFS with endocrine disorders in the literature that describe incidental findings like autoimmune thyroiditis and hypoparathyroidism, but there is no known biological mechanism linking KFS and endocrine dysfunction. Moreover, there is no evidence in either our patient's case or in existing literature to suggest a higher occurrence of autoimmune disorders like Hashimoto in such individuals. Conclusion: we present a novel case of KFS found incidentally with primary hypothyroidism. While these endocrine disorders could compound the growth delay and developmental issues typically seen in KFS, they do not appear to be causally related. This case highlights the need to monitor endocrine function in KFS patients and serves as a reminder that common conditions may co-occur simply by chance. Presentation: 6/3/2024

8373 High suspicion for thyroid cancer in patient with thyroid Hemiagenesis

Abstract Disclosure: L. Aoun: None. S. Almardini: None. M. Anise: None. F. Haddadin: None. F. Saliba: None. J. Zaidan: None. Background: Thyroid Hemiagenesis (THA) is a rare condition characterized by congenital absence of one lobe of the thyroid gland. Notably, THA is more prevalent in females and the left lobe is more likely to be absent with or without the isthmus. Most patients are euthyroid, and diagnosis is usually incidental, so the true prevalence of THA is uncertain as there are certainly undiagnosed cases. Studies have shown a link between THA, thyroid cancer, and hyperparathyroidism. We present a case of THA and high suspicion for thyroid cancer. Case Presentation: 54-year-old female with history of Rheumatoid arthritis who presented for evaluation of incidental thyroid nodules, occasional palpitations, tremors, and mild change in her voice. She denied abnormal weight loss or diarrhea. No history of radiation to the neck and no family history of thyroid disease or thyroid cancer. The thyroid exam showed an enlarged left palpable nodule. Labs significant for TSH 1.6 mIU/L (normal: 0.4-4 mIU/L), FT4 0.8 ng/dl (normal 0.7-1.9 ng/dL) and T3 77ng/dL (normal: 60-180 ng/dL). Thyroid U/S showed left hemiagenesis and right sided nodules biggest is 1.1 cm solid, hypoechoic with coarse calcifications, FNA was recommended and showed follicular lesion of undetermined significance, molecular testing was done and Thyroseq came back intermediate to high risk RAS and EIF1AX positive reflecting a 70 % probability of cancer. Based on these results, surgery was recommended, and the patient underwent right thyroidectomy. Surgery was uncomplicated and despite reported higher risk of hyperparathyroidism patient’s calcium and PTH were normal, and no parathyroid adenomas were identified intraoperatively. The pathology from the thyroidectomy showed follicular adenoma of 1 cm and no malignancy. She was started on Synthroid 100mcg daily post op. Discussion: This case demonstrates a case of a benign thyroid nodule and preserved parathyroid levels in the setting of thyroid hemiagenesis. Usually in THA, the contralateral lobe is at an increased risk for pathology of compensatory hypertrophy or hyperplasia. According to available studies, cancer association with THA was more common in left hemiagenesis and parathyroid adenomas more common ipsilateral to hemiagenesis . Despite Our patient’s FNA revealed atypical findings, molecular testing revealed RAS and EIF1AX positive, marking intermediate to high cancer risk. However, the thyroidectomy pathology report unveiled no evidence of malignancy, contraindicating the anticipated high cancer risk in those with left THA. This case highlights the rarity of THA and different possible presentations and cancer risks. Presentation: 6/2/2024

8412 Resolution of Central Hypothyroidism shortly after Transsphenoidal Surgery For Cushing’s Disease

Abstract Disclosure: L. Esper: None. A. Ibrahim: None. N. El Asmar: None. Background: Cushing's disease is a rare endocrine disorder characterized by excessive cortisol production, resulting in various metabolic disturbances. Hypercortisolism is known to cause central hypothyroidism. The mechanism is complex and involves hypercortisolism mediated decreased TRH and TSH secretion in addition to inhibition of peripheral deiodination. This case details the successful management and recovery of a patient with Cushing's disease and reversal of central hypothyroidism after pituitary surgery.Case:A 43-year-old man was evaluated for central hypogonadism, 20 pound weight gain with central weight distribution, and the development of purple abdominal striae for the past year. He had a normal thyroid exam and appeared euthyroid. He was alsodiagnosed with hypertension and prediabetes in the past yearrequiring medical therapy.A low dose dexamethasone suppression test (DST) resulted in AM cortisol of 12.9 mcg/dl. Two adequate 24hr Urinary cortisol measurements showed elevated cortisol excretion at 458 and 378mcg/24. Lab evaluation revealed elevated cortisol levels along with elevated adrenocorticotropic hormone (ACTH) levels(ACTH of 172 pg/ml with a cortisol level of 23.9 mcg/dl). A high dose DST demonstrated suppression of cortisol to 3.4 mcg/dl. MRI pituitary was performed which showed a clearright sided 7mm pituitary adenoma.Thyroid function tests performed were consistent with central hypothyroidism, with low levels of free thyroxine (FT4) at 0.67ng/dl along with an inappropriately low normal thyroidstimulating hormone (TSH) at 0.596 uIU/ml. Total T4 was low at 4 ug/dl in addition to a low total T3 of 66 ng/dl. Remaining labs revealed central hypogonadism along with slightly elevated prolactin of 16 ng/ml. He was not started on thyroid hormone.He then underwent transsphenoidal surgery for tumor removal. He developed post-operative adrenal insufficiency (cortisol 2.12 mcg/dl) 16 hours post-op after which he was started on hydrocortisone replacement, indicating remission. 12 hours post-op, his TSH was 0.656 uIU/ml with a free t4 of 0.79 ng/dl, both in the normal range. 36 hours post-op, TSH was 0.524 uIU/ml and free t4 was 1.15 ng/dl. Histopathological examination confirmed the diagnosis of an ACTH-secreting pituitary adenoma.At 4 weeks post-op, thyroid labs showed normal FT4 (1.07ng/dl) and TSH (2.06uIU/ml). Conclusion: Hypercortisolism causes a global inhibition of the thyroid axis, with decreased levels of TSH, T4, and T3 (1). Previous studies suggest the monitoring of thyroid function at 6 and 12 months after surgical cure of hypercortisolism. Our case suggests that the resolution of hypothyroidism occurs shortly after surgery for Cushing’s disease and the need for earlier monitoring. Presentation: 6/3/2024

FRI498 Paraneoplastic Hyperthyroidism In A Patient With B-hCG Secreting Gastric Carcinoma

Abstract Disclosure: F. Perreault: None. M. Tehfe: None. M. Laskine: None. L. Ste-Marie: None. R. Comtois: None. B. Nguyen: None. J. Murphy-Lavallée: None. A. Rakel: None. Introduction: Human chorionic gonadotropin (hCG) has thyrotropic activity, due to a similar structure to TSH. Increased hCG serum levels can cause hyperthyroidism secondary to TSH-receptor activation. hCG can be increased in conditions outside of pregnancy, such as gestational trophoblastic disease and other tumors. Common hCG secreting tumors are non-seminomatous germ cell tumors, including choriocarcinoma and teratoma1. Even if gastric adenocarcinomas can secrete ß-hCG, the serum level is rarely elevated2. Clinical Case: A 75-year-old man presented to the hospital for abdominal pain, diarrhea, and important recent weight loss. The patient was known for hypertension, dyslipidemia, type 2 diabetes, and chronic kidney disease. He had been investigated for sub-clinical hyperthyroidism one year prior (TSH 0.27 mUI/L (N 0.38-5.33), T4 14 pmol/L (N 8.0-20.0), T3 4.7 pmol/L (N 3.8-6.0), normal thyroid ultrasound and normal uptake at scintigraphy). At physical examination, the patient looked anxious, had a light lid lag, sinus tachycardia (120 BPM) and a new systolic heart murmur. The thyroid exam was normal and there was no pretibial myxedema nor exophthalmia. The blood tests showed normocytic anemia (Hb 113 g/L, N>130), low TSH (< 0.01 mUI/L), and elevated free T4 (74.1 pmol/L) and T3 (22.5 pmol/L). A work-up for hyperthyroidism revealed normal anti-TPO (4 UI/mL, N<9) and TSH receptor (1.2 UI/L, N<1.8) antibodies levels. Tc-99m thyroid scintigraphy showed homogeneous and intense uptake, with no nodule. Additionally, the abdominal CT-scan revealed multiple retroperitoneal lymphadenopathies and liver hypodensities, suspicious of neoplasia. In this context, the patient underwent gastroscopy, and a gastric antral mass was discovered. Neoplastic markers were measured and, unexpectedly, ß-hCG was strongly elevated (>1 080 800 U/L, N<2.0). Testicle ultrasound was normal. The antral mass biopsy was consistent with infiltrating gastric adenocarcinoma, with ring cells containing intracellular mucin and expressing hCG. The patient was treated with methimazole and propranolol. Free T3 and T4 initially decreased with this treatment (to 7.1 pmol/L and 46.4 pmol/L respectively), but one month later, the serum values were higher (14.9 pmol/L and 69.2 pmol/L). No follow-up was possible for this patient as he passed away before receiving treatment for cancer. Conclusion: ß-hCG induced hyperthyroidism can aggravate patients’ malignant manifestations and should be considered in cases presenting with concomitant cancer and hyperthyroidism.

Abstract #1401671: Hashimoto’s Disease with Thyroid Eye Disease, Negative TRAB and Positive TPO Antibodies Treated with Teprotumumab

Thyroid Eye Disease (TED) is most commonly associated with hyperthyroidism secondary to Graves’ disease (GD). The disease activity of TED is positively correlated with the presence of thyrotropin receptor antibodies (TRAB). Some with TED are euthyroid at presentation but have positive TRAB. Less frequently, patients with Hashimoto’s disease have TED, the majority of which are TRAB positive. We present a unique case of euthyroid TED with negative TRAB but positive thyroid peroxidase antibodies (TPO Ab) treated with teprotumumab. A 65-year-old African-American male presented with a 9-day history of gradually worsening vision, ocular pain, and bilateral eye bulging. His best-corrected visual acuity at near was 20/200 right eye and 20/400 left eye with full peripheral vision by confrontation. Pupils were equal and reactive to light with normal intraocular pressure. There was bilateral upper eyelid retraction, diffuse conjunctival injection, proptosis, and diffuse external ophthalmoplegia. His clinical activity score was 7. The thyroid exam was normal. Computed Tomography (CT) scan of the orbits showed significant, tendon-sparing enlargement of all extraocular muscles along with bilateral orbital apex crowding. Bilateral compressive optic neuropathy from severe TED was suspected. TSH, free T4, and T3 were normal. TPO Ab was positive but TRAB was negative by both binding inhibitory and Thyroid Stimulating Immunoglobulin (TSI) assays. He was treated with high-dose intravenous methylprednisolone for 5 days followed by 2 weeks of oral prednisone. One month after presentation treatment was initiated with 8 infusions of teprotumumab with complete resolution of all ocular symptoms and restoration of normal vision. Six months after the last dose of teprotumumab he remains euthyroid with negative TRAB and positive TPO Ab. TED is uncommon in euthyroid individuals. Most have positive TRAB and many ultimately develop hyperthyroidism. Even less common are those with Hashimoto’s thyroiditis (HT) presenting with TED. Teprotumumab is the only Food and Drug Administration-approved medication to treat TED. Our patient with vision-threatening TED had a remarkable response to teprotumumab with the restoration of normal vision and resolution of TED. We could not identify any other reports of a patient with euthyroid HT with positive TPO Ab but negative TRAB treated with teprotumumab. Physicians should be mindful of this unusual presentation to detect cases early and institute appropriate treatment to prevent visual complications.

Abstract #1395500: Silent Thyroiditis as a Complication of Severe Acute Respiratory Syndrome Coronavirus 2 Vaccine

Silent autoimmune thyroiditis, a type of chronic autoimmune thyroiditis, as an adverse effect of Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination is infrequently reported in the literature. We hereby describe a case of silent thyroiditis followed by Grave’s orbitopathy after vaccination against SARS-CoV2. An 84-year-old male presented to clinic with a 10-pound weight loss with no other symptoms of hyperthyroidism, no personal history of thyroid illnesses, or recent viral infections. He had normal thyroid function 3 months prior to presentation. He had received 3 doses of SARS-CoV2 Pfizer-BioNTech vaccine with the last dose 5 months prior to presentation. Thyroid exam was normal. Laboratory testing revealed thyroid stimulating hormone (TSH) level of 0.005 IU/ml (0.45-4.5 IU/ml), total T4 14.4 g/dl (4.5-12.1 g/dl), and total T3 1.22 nmol/l (0.6-1.81 nmol/l). Thyroid Ultrasound revealed a heterogeneous atrophic thyroid gland with no nodules or hypervascularity. He was started on Methimazole by primary care provider. Four months later, he was seen in the Endocrinology clinic and reported no hyperthyroidism symptoms. His TSH level at that time was 65.9 IU/ml, free T4 0.47 ng/dl (normal: 0.82-1.77 ng/dl), total T3 level 75 ng/dl (normal: 71-180 ng/dl), thyroid stimulating immunoglobulin 2.05 IU/l (0-0.55 IU/L), thyrotropin receptor antibody level 2.8 (0-1.75). Methimazole was discontinued. At 6 months after initial presentation laboratory testing showed TSH 5.010 IU/ml, free T4 1.2 ng/dl, thyroid peroxidase antibody of 148 IU/ml (normal 0-34 IU/ml), thyroglobulin antibody 131.6 IU/ml (normal 0.0-0.9 IU/ml). He was diagnosed with silent autoimmune thyroiditis. A few weeks later, the patient presented to an ophthalmologist with bilateral eye bulging and impaired vision. He was diagnosed with acute Graves’ orbitopathy and started on pulse-dose of intravenous Methylprednisolone 250 mg twice daily and urgently referred to a tertiary ophthalmology center for teprotumumab infusion. His thyroid function tests were normal at that time on no thyroid medications. The underlying mechanisms of thyroid impairment following SARS-CoV2 vaccination are not completely understood. There is a role of molecular mimicry between SARS-CoV2 antigens and thyroid antigens that may help to hasten the emergence of autoimmunity in vulnerable individuals. Our patient developed multiple thyroid-related antibodies following vaccination. Silent painless thyroiditis is a self-limiting condition, characterized by temporary thyrotoxicosis, followed by a brief period of hypothyroidism and then a complete return to normal thyroid function. A radioactive iodine uptake scan can help differentiate between the different causes of thyrotoxicosis in the acute thyrotoxic phase. Development of severe Graves orbitopathy following silent autoimmune thyroiditis after SARS COV2 vaccination has not been previously reported.

ODP501 New-Onset Graves’ Disease in a Patient with Recent Diagnosis of Covid-19 Infection

Abstract Background Thyroid disorders have been described in patients with Covid-19 infection. Although thyrotoxicosis secondary to thyroiditis is mostly reported in several publications worldwide in patients infected with Covid-19, new-onset Graves’ disease is rarely reported. Clinical Case A 41-year-old female without significant past medical history presented to emergency room with nausea, vomiting, palpitations and syncope. She was diagnosed with COVID-19 infection five days prior to her presentation. On admission, patient was normotensive, tachycardic with heart rate of 135 beats/min, and oxygen saturation >90% on room air. Thyroid exam was unremarkable. Initial labs showed suppressed TSH, elevated free T4 of 2.58 ng/dL (0.76–1.70 ng/dL) and elevated total T3 of 210 ng/dL (80–175 ng/dL). The computed tomography pulmonary angiogram (CTPE) was negative for pulmonary embolism. Transthoracic echocardiogram (TTE) showed moderate cardiac effusion without tamponade. Patient had no prior history of thyroid disease, but her mother had hypothyroidism. With Burch-Wartofsky score of 50, treatment for thyroid storm was initiated: Hydrocortisone, propranolol, and propylthiouracil (PTU), followed by cholestyramine, and super saturated potassium iodide (SSKI). Shortly after, patient developed hypotension requiring norepinephrine infusion and transfer to intensive care unit. Repeat TTE showed ejection fraction of 50%, moderate pericardial effusion without tamponade, and global hypokinesis suggestive of myocarditis. Propranolol was held. Although patient's blood pressure improved overnight, patient developed shock liver with AST elevated at 4,095 IU/L (8-30 IU/L), ALT at 2,837 IU/L (<35 IU/L), and total bilirubin at 1.6 mg/dl (0.2-1.2 mg/dl) compared to normal values on admission. PTU was discontinued after two doses due to elevated liver enzymes. Thyroid scan showed diffuse mildly increased radiotracer uptake suggestive of autoimmune thyroid disease. Thyroid stimulating immunoglobulin (TSI) was elevated at 6.5 IU/L (<0.55IU/L) with thyrotropin receptor antibody (TRAb) of 8.39 IU/L (0. 00 - 1.75 IU/L) suggestive of Graves’ disease. On discharge, patient was asymptomatic. At outpatient follow up, patient had improvement in liver enzymes and mild hyperthyroidism, methimazole was started with the plan for close monitoring of liver enzymes and thyroid function tests. Conclusion New-onset Graves’ disease can occur in the setting of Covid-19 infection. It is crucial to report this type of cases to gain more insights in the exact relationship between thyroid disease and Covid-19 infection. Physicians should be aware of the possibility of Graves’ disease in addition to thyroiditis in the setting of thyrotoxicosis and Covid-19 infection. Making the right diagnosis is essential as treatment and course of disease are very different. Presentation: No date and time listed

Subacute Thyroiditis With Very Elevated Thyroglobulin Level in a Patient on Chronic Adalimumab Therapy

Background: Viral infections are a well-recognized cause of subacute thyroiditis (SAT), but other etiologies are occasionally seen. Here we present a case of SAT in a patient receiving chronic tumor necrosis factor inhibitor (TNF-i) therapy. Serum thyroglobulin (Tg) levels in healthy individuals have been reported and range 1.40-29.2ng/mL in males and 1.50-38.5ng/mL. There are no known serum Tg levels of reference in SAT. Clinical Case: A 43-year-old woman with a history of psoriasis treated with adalimumab presented to her primary care physician (PCP) 2 months after her mother had noticed the patient’s new goiter. Patient recalled upper respiratory infection symptoms lasting 1.5 weeks, and subsequent agitation, insomnia, and a low-grade fever preceding the development of goiter. She denied neck compressive symptoms aside from mild dysphagia. She has been treated with adalimumab 40mg subcutaneous injection weekly for psoriasis with good results for the past 3.5 years and was on norethindrone 0.35mg daily for contraception. Her thyroid exam with her PCP revealed a diffuse painless goiter and she was clinically euthyroid. Labs revealed a TSH 1.44mIU/L [0.45-5.33], TT3 104ng/dL [60-181], fT3 3.3pg/mL [2.3-4.2], fT4 0.83ng/dL [0.89-1.76], and Tg 288.7ng/mL [1.6-50]. Thyroid antibodies (Tg, thyroid peroxidase and thyroid stimulating immunoglobulin) were negative. She tested negative for COVID-19. The neck ultrasound showed an enlarged pseudonodular thyroid gland with a heterogenous parenchyma and diffuse hypervascularity bilaterally (right lobe, 7.4 x 2.8 x 3.0 cm; left lobe, 8.4 x 3.2 x 3.6 cm; isthmus, 9 mm). A month later, repeat labs showed TSH 1.56 mIU/L, TT3 85 ng/dL, fT4 0.74 ng/dL, and Tg 231.2 ng/mL. She was subsequently referred to Endocrine Clinic 4 months after her initial presentation. She had a persistent diffuse painless goiter, minimally decreased in size, and she remained clinically euthyroid. Labs included a TSH 1.75 mIU/L and fT4 0.78 ng/dL. Conclusion: There are known associations of SAT with chronic TNF-i therapy in patients with psoriasis. Viral infections are an identified cause, but other triggers in chronic TNF-i therapy may exist. Serum Tg is elevated during SAT, but in this case Tg elevation was very significant. Although normal serum Tg levels are established in healthy individuals, there are no known reference values during SAT. Tg levels should not be used in acute illness period to evaluate illness severity or the resolution of SAT.

MON-473 Evaluating Conflicting Thyroid Function Tests in New Admissions: Discordance of TSH, FreeT4 and Clinical Status: A Clinical Challenge!

Background: It is not uncommon to encounter patients whose thyroid function tests (TFTs) seem mutually inconsistent or inconsistent with a patient’s clinical status, At times, the simplest reconciliation of the findings invokes a rare disorder that we are hesitant to accept. In this case, a clinically euthyroid patient presents with elevated TSH and Free T4 (FT4) suggestive of a TSH-producing tumor or of Thyroid Hormone Resistance. Clinical Case: A 72 yr-old man with cardiomyopathy on amiodarone is admitted to the Medical Service for treatment of anasarca. He had no symptoms or signs of thyroid dysfunction and was not taking L-T4, amphetamines or propranolol. Findings on exam included normal VS, runs of atrial tachycardia, and edema from feet to scrotum. Thyroid exam was normal. Serum creatinine was 2.24 mg/dl (NL: 0.67-1.17). Bili was 2.7 mg/dl (NL: 0.67-1.17); AST and ALT were normal, Chest x-ray revealed cardiomegaly with clear lung fields. Thyroid ultrasound revealed a normal size gland containing a few sub-centimetric nodules. On Day 2 The serum FT4, by analog assay, was elevated at 1.66 ng/dl (NL: 0.76-1.46) and TSH was elevated at 9.06 mIU/L (NL: 0.35-3.74), Anti-peroxidase and anti-thyroglobulin antibodies were negative. The Medical Service’ diagnosis was “amiodarone-induced thyroiditis.” The amiodarone was discontinued and diuresis was induced with bumetanide, Endocrinology consultation was requested On Day 4 the FT4 and TSH were still elevated at 1.62 and 10.1, respectively. FT4 by dialysis was not elevated at 1.62 ng/dl (NL: 0.9-2.2). The FT3 was 2.34 pg/ml (NL: 2.18-3.98). On Day 5 Anti-thyroxine antibodies and Thyroid Stimulating Immunoglobulins (TSI) were negative. Paired TSH samples with and without neutralization of Human Anti-Mouse Antibodies (HAMA) were identical: both elevated at 8.30 mIU/L (NL: 0.4-4.50). Serum Iodine was markedly elevated at 2288 mcg/L (NL: 52-109).The FT4 levels by analog assay therefore appear to have been falsely elevated (as indicated by the dialysis assay) though not by recognized factors such as thyroxine antibodies, amphetamines or propranolol. Continued observation is necessary to further assess the transience of the post-admission TFTs. Conclusion: In patients admitted to Acute Medical or Psychiatric Services, most combinations of high or low TSH and FT4 have been reported as well other aberrations of “non-thyroidal illnesses.” In patients with conflicting TFTs at admission, especially those who are clinically euthyroid, it is generally better to allocate a few weeks for observation and monitoring than to immediately launch into searches for rare disorders. This is especially important when multiple potentially thyro-active clinical states exist, such as renal and hepatic compromise, amiodarone use, and highly elevated iodine levels.

MON-093 Pleuropulmonary Blastoma and Multinodular Goiter in a 22 Yr Old Male with DICER1 Syndrome

Background DICER1 syndrome is an autosomal dominant condition due to mutations in the DICER1 gene, located on chromosome 14q32.13. Patients are at increased risk for malignant and benign tumors, including pleuropulmonary blastoma (PPB), cystic nephroma, ovarian Sertoli-Leydig cell tumors, multinodular goiter (MNG) and differentiated thyroid cancer (DTC). MNG is very common in patients with DICER1 Syndrome but data on incidence is lacking. MNG is more common in females than males.Case presentation:22 year old man who originally presented with pleuropulmonary blastoma, Type 3 at 3 years of age. His treatment included pulmonectomy, radiation of 46.6 Gy to thorax, and alkylating agents including Cisplatin, Ifosphamide and Cytoxan. He developed frontal lobe metastasis over the course of 3 years and was treated with focal cranial radiation. His father and maternal uncle had history of lung cancer.He was evaluated at the Endocrine clinic at 12 years 10 months for short stature. His height was 132.5 cm (SDS -2.96), weight 29.7 kg (SDS -2.40), and BMI 16.99kg/m² (SDS -0.61). On examination he had normal thyroid exam and Tanner 2 bilateral 4 cc testicles. He was treated with Levothyroxine for subclinical hypothyroidism (TSH: 5.96 uIU/ml (0.35–5.5) and Free T 4: 0.99 ng/dl (0.8–1.80) and growth hormone (GH) for growth hormone deficiency (peak GH was 7.7 ng/ml after Arginine and Clonidine GH stimulation test).At 14 years 10 month he developed respiratory distress. CT scan of chest showed right lower pole nodule 1.6 x 1.5 x 1.4 cm. Ultrasound of thyroid showed right thyroid solid mid pole isoechoic nodule 1.4 x 1.7 x 1.3 cm with multiple enlarged bilateral cervical nodes, largest left supraclavicular region > 1 cm. Biopsy of the right nodule was negative for malignancy. Over the course of 2 years he developed new right thyroid isoechoic nodule in the lower pole 2.1 x 2.5 x 1.9 cm and new left thyroid isoechoic nodule in the upper pole 1.0 x 0.5 x 0.5 cm. Biopsy was negative for malignancy.Due to his PPB, MNG and family history of lung cancer he was evaluated at our genetic cancer clinic and tested positive for germline DICER1 pathogenic variant c.4605_4606del (p.Cys1535Trpfs*3)Conclusion:Our 22 year old male presented with pleuropulmonary blastoma and over the course of few years developed MNG. Genetic testing was positive for germline DICER1 pathogenic variant c.4605_4606del (p.Cys1535Trpfs*3). Our case illustrates the importance of consideration of: 1) Testing children with PPB for DICER1 Syndrome as there are screening recommendations including regular thyroid ultrasound and examinations to look for MNG or other features concerning for thyroid gland neoplasia. 2) MNG is uncommon in children and detection of this should raise suspicion for consideration of testing for DICER1 Syndrome.

SUN-283 FH Variant in a Child with Family History of Early-Onset Pheochromocytoma

Pheochromocytoma (PCC) and paraganglioma (PGL) are rare neuroendocrine tumors associated with many genes. Recently, the fumarate hydratase gene (FH) has been implicated. We describe a case of a child evaluated for PCC who was found to have a variant in FH. A 7y5mo female was referred to our pediatric endocrinology clinic for evaluation of possible PCC. Family history included 3 relatives with reported early-onset PCC (ages 8-15), including mother (alive), maternal uncle and maternal grandfather (both deceased). There was reported thyroid disease in maternal grandmother, but no other family history of conditions seen with PCC-related syndromes. The patient was healthy aside from obesity until developing headaches 5 mo prior to visit with us. Given her family history, 24-hr urine collection for catecholamines was done which showed marked elevations in urine metanephrines, normetanephrines, norepinephrine, and dopamine compared to lab reference ranges. Contrast-enhanced abdominal CT was normal by report. At the time of her visit, headaches had improved. Exam was notable for high BP at >95th percentile for height (no prior hypertension diagnosis) and obesity; there were no mucosal neuromas and thyroid exam was normal. We arranged for plasma fractionated metanephrine and normetanephrine testing and checked prolactin, gastrin, calcitonin, calcium, phosphorus, and vitamin D levels. All labs were unremarkable. MIBG scan was normal. 24-hr urine free metanephrine testing was repeated and normal. She was seen in our genetics division and tested for PCC-associated genes. A heterozygous variant in FH, c.925C>T (p.Pro309Ser), was found. This variant was classified as of uncertain significance and is present in population databases but has not been described with FH-related disease. FH is associated with autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC), and has early evidence of correlation with hereditary PCC/PGL. We present a case of a child who was initially suspected to have PCC based on family history, headaches, and elevated urine catecholamines but who had normal results on confirmatory testing. She was found to have a FH variant, p.Pro309Ser, classified as uncertain in significance but which we believe may be disease-causing in this family; testing for the variant in her mother is being pursued. To our knowledge, only one case of a FH mutation associated with PCC in a child has been published. On a practical note, the patient’s fluctuating urine catecholamines may have been due to large volume on initial sample, which did not occur on the second sample; it is important to consider urine volume when interpreting urine catecholamine results. This case also highlights the impact on management that targeted genetic testing can have: knowledge of FH’s association with non-PCC conditions prompts consideration of additional screening that might not be performed for PCC alone.

SAT-587 Rapid Induction of Thyrotoxicosis from Iodinated Contrast Medium (ICM)

ICM used in computerized tomography (CT) is well known to induce thyrotoxicosis occasionally in patients with latent disorders prone to thyrotoxicosis (e.g. autonomous multinodular goiter and Graves’ disease) and even in patients without known thyroid disease. This phenomenon is thought to be due to the inability to regulate thyroid hormone synthesis in the presence of a supra-physiological availability of iodine. The onset of thyrotoxicosis in such cases is generally 2-12 weeks after iodine exposure. Less well known is the induction of a destructive thyroiditis created by thyroidal exposure to large concentrations of iodine. The onset of thyrotoxicosis from the latter cause is thought to be within a few days. Several cases exhibit an onset within a day of iodine exposure. We describe a case in which suppressed TSH and elevated FT4 levels were observed only 13 hours after exposure to ICM in a CT-Chest Angiogram. The patient was a 75 y/o man with no recognized hx of a thyroid disorder, admitted to the ICU on Day-1 with shortness of breath thought secondary to COPD or to a PE. Though tachycardic (85-100/min), he did not appear clinically thyrotoxic on the basis of other symptoms and physical findings. The thyroid exam was normal. His most recent TSH and Free T4 (FT4) levels, only 2 mo prior to admission, were normal [TSH-3.27, NL=0.358-3.74 mU/L], [FT4-1.13, NL=0.76-1.46 ng/dl]. On Day-1 at 16:05 the patient received 100 ml of iopamidol (755 mg/ml) IV, which ruled out a PE. TSH and FT4 levels drawn at 06:50 on Day-2 were 0.011 and 5.81, respectively. The Free T3 (FT3) level was mid-normal at 3.01 [NL=2.18-3.98 pg/ml]. Reverse T3 was elevated at 149 [NL=8-25 ng/dl]. Anti-Peroxidase and Anti-Thyroglobulin antibodies were not elevated but Thyroid Stimulating Immunoglobulins (TSI) were elevated at 503% [NL <140%]. At 10:58 on the same morning he received another 100 ml of iopamidol for a CT-Abdominal Angiogram, which ruled out rupture of his chronic abdominal aortic aneurysm. A thyroid ultrasound documented a normal size gland with only an inhomogeneous parenchyma and a 0.5 cm cyst. On Day-7 the plasma iodine level was 778 [NL=52-109 mcg/L]. After review of the above data, the patient was thought to be moderately thyrotoxic and started on prednisone 60 mg QD for 5 days and methimazole 5 mg BID for 6 days, decreased to 2.5 mg BID for 12 days, then discontinued. The FT4 normalized within 6 days of starting methimazole. The TSH level normalized within 8 weeks. Over this period, the heart rate normalized and the dyspnea improved considerably. The plasma Iodine level 2 mo after admission was normal at 76 mcg/L. This case documents an unusually rapid induction of thyrotoxicosis (13 hours) in a patient with latent Graves’ disease and normal TSH and FT4 levels only 60 days prior to iodine exposure. After starting treatment with methimazole the FT4 normalized in only 6 days.

SUN-615 Hurdles in Hurthle Cell Cancer: A Case Report on Hurthle Cell Thyroid Cancer with Vertebral Metastasis

Introduction: Hurthle cell thyroid carcinoma (HCC) is a rare variant of follicular thyroid cancer, exhibiting a different clinical behavior and believed to be more aggressive but with relatively good prognosis. Correct identification of HCC in indeterminate cytological samples is challenging and ultrasound features can be misleading. No specific recommendations exist, making the management of HCC difficult [1]. Clinical Case: A 55-year-old obese woman with history of hypertension and stroke presented with severe back pain, and progressive lower leg motor and sensory weakness over 4 months. Two months prior to consult, a T7 vertebral mass was discovered, and she subsequently underwent decompressive surgery. Histopathology revealed metastatic follicular variant or papillary thyroid carcinoma. The patient was in severe pain and had complete loss of motor and sensory function in lower extremities. Thyroid exam revealed palpable nodules. Neck UTZ showed well-defined calcified nodules in both thyroid lobes, with largest in the mid-section of right lobe measuring 3.3 x 1.6 x 1.9 cm with minimal peripheral vascularity. She was given oxycodone, pregabalin, paracetamol and IV dexamethasone. Palliative radiotherapy was given using external-beam radiotherapy targeting T7 at a dose of 30 Gy in 10 fractions/ 10 days. Urinary tract infection, hypertension and constipation were detected and managed accordingly. She underwent total thyroidectomy 20 days later. Histopathology showed minimally invasive HCC with 4 cm tumor, no extrathyroidal extension, and negative for lymph node involvement. Post-surgical radiotherapy at 150 mCi I-131 was given. Post-ablation whole body scan revealed single island at right thyroid bed with an intense localization to the left of spinal column at the level of T6-T7, suggestive of functioning thyroid metastasis. TSH suppression was initiated. There is significant improvement within 3 months. She regained bladder and bowel control, as well as improvement in motor and sensory strength. Currently there is continuous improvement in function. Conclusion: Early recognition and prompt management should be done to all patients with HCC. UTZ and FNAB suggestive of Hurthle cell morphology can guide us in detecting HCC.

‘T3 or not T3?’: A poetic guide to the thyroid exam

From the end of the bed, is the patient comfortable at rest?And for the weather are they appropriately dressed?For a goitre or enlargement, be sure to try and see,Then check their behaviour, are they tired or fidgety?Next inspect the hands, for any signs of clubbing,And feel the radial pulse for

Symptoms and signs associated with postpartum thyroiditis.

Background. Postpartum thyroiditis (PPT) is a common triphasic autoimmune disease in women with thyroid peroxidase (TPO) autoantibodies. This study evaluated women's thyroid disease symptoms, physical findings, stress levels, and thyroid stimulating hormone (TSH) levels across six postpartum months in three groups, TPO negative, TPO positive, and PPT positive women. Methods. Women were recruited in midpregnancy (n = 631) and TPO status was determined which then was used to form the three postpartum groups. The three groups were compared on TSH levels, thyroid symptoms, weight, blood pressure, heart rate, a thyroid exam, and stress scores. Results. Fifty-six percent of the TPO positive women developed PPT. Hypothyroid group (F (2, 742) = 5.8, P = .003) and hyperthyroid group (F (2, 747) = 6.6, P = .001) subscale scores differed by group. Several symptoms and stress scores were highest in the PPT group. Conclusions. The normal postpartum is associated with many symptoms that mimic thyroid disease symptoms, but severity is greater in women with either TPO or PPT positivity. While the most severe symptoms were generally seen in PPT positive women, even TPO positive women seem to have higher risk for these signs and symptoms.

Prevalence of autoimmune thyroiditis in patients with polycystic ovary syndrome

Hypothyroidism is associated with pregnancy complications both for the mother and progeny and it should be considered in reproductive age. Thyroid autoimmunity is stated to be the main cause of hypothyroidism in iodine sufficient areas. Polycystic ovary syndrome (PCOS) is known as the most common endocrine disorder affecting women in reproductive age. Early diagnosis and treatment of hypothyroidism in PCOS may reduce the rate of infertility and pregnancy-related morbidity. In the present study we evaluated thyroid autoimmunity in PCOS patients. Over a period of 12 months, 78 patients with PCOS were recruited to this case-control study. Three hundred and fifty age-matched women were studied as a control group. PCOS was defined according to the revised 2003 Rotterdam criteria. Thyroid size was estimated by inspection and palpation. Serum thyroid stimulating hormone (TSH), anti-thyroperoxidase antibody (anti-TPO Ab), and anti-thyroglobulin antibody (anti-Tg Ab) were measured. The mean ± SD of serum anti-TPO Ab in PCOS patients and subjects in the control group was 216 ± 428 and 131 ± 364 IU/mL, respectively (P = 0.04). Prevalence of goiter in PCOS patients was higher than that in control subjects (62.3 vs. 35.7%, P = 0.0001). Serum TSH and anti-Tg Ab in PCOS patients and control subjects did not differ significantly. In this case-control study, anti-thyroid antibodies and goiter prevalence were significantly higher in PCOS patients. These data suggest that thyroid exam and evaluation of thyroid function and autoimmunity should be considered in such patients.

Resumption of Normal Menstrual Function in an Olympic Speed Skater

HISTORY: 22-year old female Olympic long-track speed skater presented with a 1.5-year history of amenorrhea which began after a piriformis injury. She states that she had a 4.5 kg weight loss following this injury. She had no prior history of menstrual dysfunction and began her period at age 13 y. She was initially treated with anti-inflammatory medication without relief. Following this, her activities were changed to rowing, cycling and running with no strength and sport-specific training, and her team physician modified her skates, which resolved the problem. An initial panel of blood tests was ordered by team physician (see table below). She had also been working with a sports dietitian since 7/ 2005. She denied pregnancy, use of contraception, eating disorder, galactorrhea, heat or cold intolerance, or hirsuitism. Her past medical history was significant for exercise-induced asthma and vocal cord dysfunction. PHYSICAL EXAMINATION: Her vital signs are normal. Her heart, lung, thyroid exam are all normal and she has no physical exam features consistent with eating disorder. DIFFERENTIAL DIAGNOSIS: Amenorrhea due to decreased energy availability Female athlete triad TESTS AND RESULTS: FINAL WORKING DIAGNOSIS: Amenorrhea due to decreased energy availability TREATMENT & OUTCOME: Energy intake (EI) was increased slightly to better meet high exercise energy expenditure (EEE) of intense training. Change to sport-specific training decreased the athlete's EEE, while EI increased, resulting in EA of 41.6 kcal/kgFFM/d and weight, fat, and FFM gain. Resumption of normal menstrual function occurred 3 weeks after progesterone challenge (10 mg of progesterone x 10 d) and continuous intervention adjusting EI to high EEE. This athlete probably resumed normal menstrual function due to improved EA, resulting from slight adjustments in training and nutrition, and less likely due to hormonal manipulations.

Prevalence of Palpable Thyroid Nodule in Isfahan, Iran, 2006: A Population Based Study

This cross-sectional study enrolled 2 523 of adult general population (age > 20 years) of Isfahan city. History taking and thyroid exam was performed by seven trained general practitioners. The concentration of TSH was measured in all, TgAb and TPOAb in approximately one in six and urinary iodine concentration in one fourth of them, randomly. We recalled people with any suspicious abnormality in thyroid exam or whose TSH levels were not normal at present or past. They were re-visited by an endocrinologist to confirm or rule out the diagnosis and second serum sample was obtained to measure T4, T3, T3RU and TSH. Thyroid nodule was identified in 62 (17 men and 45 women) out of 2 523 participants (2.5%; 95% CI: 2-3). Single and multiple nodules were found in 56 (2.2%; 95% CI: 1-2.5) and 6 (0.24%; 95% CI: 0.07-0.5) out of 2 523 persons, respectively. The prevalence of nodule was higher in females (3.5%) than in males (1.3%) (OR=2.72, 95% CI, 1.53-5.06, P=0.001). It was significantly higher in patients older than 35 years in comparison with younger people (3.3% vs. 1.3%; OR=2.5; 95% CI, 1.3-4.7; P=0.002). The prevalence of thyroid nodule in our study is less than what has been reported in other countries. It is due to lower prevalence in female population. Its prevalence in males is similar to other studies. It seems that geographical and racial differences or higher prevalence of deeper location of some nodules in female Isfahani population could explain this finding.

Nutritional status of indigenous children at boarding schools in northern Mexico.

To assess the nutritional status of Tarahumara children at indigenous boarding schools. Cross-sectional comprehensive nutritional survey. The schools sampled were located in indigenous municipalities of the northern Mexican state of Chihuahua. The study was carried out in 2001 among 331 children aged 6-14 y from a sample of five schools. Anthropometric measurements, a thyroid exam and capillary haemoglobin levels were obtained from the children. Serum concentrations of ferritin, iron, total iron-binding capacity, vitamin B(12), folic acid and zinc were collected from a subsample of 100 children. The prevalence of wasting and overweight (children 6-9 y) was 1.1 and 4.6%, respectively, and of underweight, risk of overweight and overweight (10-14 y) was 3.2, 5.1 and 0.6%, respectively. Stunting (6-12 y) was present in 22.3% of the children. The total goitre rate was 5.4%. The prevalence of anaemia was 13% (boys 11.4, girls 14.5%). Overall, 24.2% of the children were iron deficient (depletion 11.1%, deficient erythropoiesis 3%, iron deficiency anaemia 10.1%). No child had folic acid values <3 ng/ml, but 20.2% had low (<200 microg/dl) and 27.3% marginal (200-300 microg/dl) vitamin B(12) levels, and 80.2% had low zinc concentrations (<60 microg/dl). Nutritional underweight and stunting were similar to those reported in rural localities at the national level, but overweight was less prevalent in children aged 10-14 y. Various micronutrient deficiencies was identified including zinc and vitamin B(12), but the prevalence of iron and folic acid deficiency was lower than expected. These results suggest that Tarahumara children attending boarding schools may be the better-off children from these extremely poor and marginalized areas. Swedish Agency for Research Cooperation with Developing Countries and the Mexican Social Security Institute.

The clinical evaluation of patients with subclinical hyperthyroidism and free triiodothyronine (free T 3) toxicosis

purpose: To develop a strategy to identify cases of endogenous subclinical hyperthyroidism and free triiodothyronine (free T 3) thyrotoxicosis in otherwise healthy ambulatory patients. patients and methods: In a retrospective study we reviewed the records of ambulatory patients who had thyroid stimulating hormone (TSH) levels determined between October 1, 1991 and August 31, 1992. Each patient also had a simultaneous free thyroxine (free T 4) measurement. Patients were excluded from consideration if they had active, concurrent non-thyroidal illness, psychiatric disease, known hypothalamic/pituitary lesions, were under treatment for hyper- or hypothyroidism, were on drugs known to affect TSH levels, or were pregnant. Patients without exclusions were diagnosed with free T 3 toxicosis if they had: (1) a markedly subnormal TSH level (less than or equal to 0.1 mU/L), (2) a normal free T 4, (3) a normal total T 3, (4) evidence of a primary thyroid abnormality (e.g., autonomous function on a thyroid scan), and (5) an elevated free T 3 level by tracer equilibrium dialysis. Patients meeting conditions 1–4, but with normal free T 3 levels, were considered to have subclinical hyperthyroidism. results: One thousand twenty-five patients had TSH and simultaneous free T 4 determinations, and 148 of these had markedly subnormal TSH but normal free T 4 levels. Three patients met the criteria for free T 3 toxicosis and three had subclinical hyperthyroidism. All six patients had either multinodular glands or a single nodule on thyroid exam. Four patients were treated with radioactive iodine or surgery, resulting in reversal of the TSH suppression in three cases. conclusion: Apparently healthy ambulatory patients with subnormal TSH levels should be worked up with measurements of free T 4 and total T 3. If these are normal, a T 3 level (by tracer equilibrium dialysis) be obtained to distinguish subclinical hyperthyroidism from overt free T 3 toxicosis. A thyroid scan and radioiodine uptake measurement can be obtained to substantiate the diagnosis. Some patients with these conditions will benefit from treatment.