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Open access

Acute adrenal crisis precipitated by thyroid storm in a patient with undiagnosed autoimmune polyglandular syndrome type 2

Najoua Lassoued, Wafa Alaya, Senda Rebai, Sondos Arfa, Baha Zantour, and Mohamed Habib Sfar

Summary

Autoimmune polyglandular syndrome (APS) type 2 is characterized by the presence of Addison’s disease (AD) along with autoimmune thyroid disease and/or type 1 diabetes. APS type 2 is known as Schmidt’s syndrome when autoimmune adrenal insufficiency is associated with chronic lymphocytic thyroiditis. We report a very rare case of a 28-year-old female patient who had Schmidt’s syndrome revealed by a thyroid storm (TS) concomitant with an acute adrenal crisis. The onset of AD resulted in a surgical emergency. The patient presented with cardiogenic shock and an acute abdomen. The precipitation factor was Hashitoxicosis presented as TS. This life-threatening condition was successfully reversed with aggressive medical therapy based on antithyroid drugs and intravenous glucocorticoids. This hyperthyroid phase lasted for a period of 8 months. The patient eventually developed hypothyroidism, suggesting that Hashimoto's thyroiditis was the most likely diagnosis. She was started on levothyroxine replacement therapy and remained euthyroid on levothyroxine. The case we describe had several diagnostic pitfalls that are discussed both at the start as well as during the evolution.

Learning points

  • Autoimmune diseases can appear concomitantly or succeed each other over time. The clinician must be vigilant to detect these diseases in time in order to avoid a misdiagnosis of a life-threatening emergency such as adrenal insufficiency or thyroid storm.

  • Thyroid storm is an uncommon but life-threatening manifestation of hyperthyroidism. Diagnosis is dependent on clinical symptoms, and no specific laboratory tests are available.

  • Glucocorticoids should be used in the treatment of thyroid storm because they have an inhibitory effect on peripheral conversion of T4 to T3.

  • In patients who have severe thyrotoxicosis, especially in conjunction with hypotension, treatment with glucocorticoids has become standard practice because of the possibility of relative adrenal insufficiency or the possibility of undiagnosed Addison’s disease.

  • The differential diagnosis of hyperthyroidism can be challenging. Graves’ disease can be discussed in view of the severity of the clinical presentation and the prolonged duration of the hyperthyroid phase. Hashitoxicosis is the initial hyperthyroid phase in chronic autoimmune thyroiditis. The hyperthyroid phase is always followed by definitive resolution, with persistent euthyroidism and no hyperthyroid relapses.

  • Synthetic antithyroid drugs may be prescribed during the hyperthyroid phase of Hashimoto thyroiditis if the clinical presentation is severe and the duration of the hyperthyroid phase is prolonged.

DOI:
https://doi.org/10.1530/EDM-21-0152
Volume 2023: Issue 2
Open access

Autoimmune hypothyroidism and trastuzumab therapy: a rare association

Valentim Lopes, Catarina Machado, and Adriana De Sousa Lages

Summary

We report a case of a woman with a diagnosis of breast cancer who unintentionally started gaining weight, feeling tired, and constipated 44 weeks after the initiation of trastuzumab. Hypothyroidism secondary to an autoimmune thyroiditis associated with trastuzumab was diagnosed, the first case described in Portugal and the fourth case described worldwide. Our intention regarding the publication of this case report is to alert the clinicians treating people with trastuzumab that they should ask the patients about symptoms of hypothyroidism and should screen the thyroid function of the patients before, during, and after the initiation of trastuzumab.

Learning points

  • Trastuzumab is a humanized MAB used in HER2-positive breast and gastric cancer.

  • Trastuzumab-associated autoimmune thyroid disease (AITD) is rare (incidence rate in an RCT of 0.3%).

  • Manifestations of autoimmune thyroiditis associated with trastuzumab resemble those of hypothyroidism in other clinical contexts, but the presence of goiter is highlighted as a reason for medical evaluation. Biochemically, it is characterized by an increased thyroid-stimulating hormone (TSH) with or without a low FT4/FT3, and sonographically with a pattern of thyroiditis.

  • The treatment consists of levothyroxine, in a dose of 1.6–1.8 µg/kg/day, with re-evaluation of the thyroid function in 4–6 weeks.

  • We report the first case of autoimmune thyroiditis secondary to trastuzumab in Portugal.

  • It is important to evaluate the thyroid function before, during, and after the initiation of this therapeutic agent.

DOI:
https://doi.org/10.1530/EDM-22-0412
Volume 2023: Issue 2
Open access

A case of subacute thyroiditis after influenza vaccination

Norio Wada, Arina Miyoshi, Shuhei Baba, Hajime Sugawara, and Shinji Obara

Summary

A 40-year-old Japanese woman presented to the outpatient clinic with fever and palpitations 2 days after receiving the influenza vaccine (Influenza HA Vaccine ‘KMB’®) following the second dose of coronavirus disease 2019 (COVID-19) vaccine (COVID-19 vaccine Moderna intramuscular injection®). At the first visit, the patient presented with a swollen thyroid gland with mild tenderness, and she was diagnosed with subacute thyroiditis (SAT) based on the presence of thyrotoxicosis (free T3: 5.42 pg/mL; free T4: 2.34 ng/dL; and thyroid-stimulating hormone (TSH): <0.01 μIU/mL), a high C-reactive protein level (5.77 mg/dL), a negative TSH receptor antibody, and characteristic ultrasound findings. The patient’s human leukocyte antigen types were A2, A11, B35, B51, DR4, and DR1403. Prednisolone (15 mg/day) was given as an initial dose, after which the fever subsided, and the dose was tapered and discontinued after 6 weeks. The patient was thought to have developed SAT due to influenza vaccination. SAT after influenza vaccination may be overlooked. For patients with SAT, it is necessary to obtain information regarding their vaccination history.

Learning points

  • After influenza vaccination, subacute thyroiditis (SAT) may develop.

  • If persistent fever, anterior neck pain, swelling, tenderness of the thyroid gland, and symptoms of thyrotoxicosis are observed immediately after vaccination for several viruses, including influenza, an examination to rule out the onset of SAT is recommended.

  • Human leukocyte antigen type A2 (HLA-A2) and HLA-B35 may be linked to the development of SAT following influenza vaccination.

  • The two doses of the coronavirus disease 2019 (COVID-19) vaccine given before the influenza vaccine may affect the onset of SAT.

DOI:
https://doi.org/10.1530/EDM-22-0364
Volume 2023: Issue 1
Open access

High-dose intravenous hydrocortisone for the treatment of hyperthyroidism: a rare precipitant of thyrotoxicosis periodic paralysis

Melanie Scheive, Neha Patel, and Zeb Saeed

Summary

Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism triggered by precipitants that increase the activity of the sodium-potassium pump in the skeletal muscle. In our case study, a previously healthy 34-year-old male presented to the emergency department with new onset thyrotoxicosis, secondary to Graves’ disease. Given the severity of his triiodothyronine (T3) thyrotoxicosis, he was admitted and started on a high dose of beta-blocker, thioamides, and intravenous hydrocortisone. On the second day of his hospitalization, he developed acute flaccid paralysis of his lower extremities. Subsequent stroke workup was negative, and his electrolytes revealed severe hypokalemia and hyperglycemia consistent with TPP. He was treated with potassium and had a complete recovery of his paralysis and hypokalemia within hours. The patient has not had any recurrence since this singular episode in the hospital. This case highlights the scenario where the treatment of hyperthyroidism with high-dose corticosteroids to reduce the conversion of thyroxine to T3 inadvertently resulted in TPP. Clinicians should be aware of this potentially rare but serious consequence of using steroids to manage hyperthyroidism.

Learning points

  • High-dose steroids used to treat hyperthyroidism in hospitalized patients may rarely precipitate thyrotoxic periodic paralysis (TPP) by inducing hypokalemia and hyperglycemia.

  • TPP should be included in the differential diagnosis for acute flaccid paralysis in hospitalized patients with hyperthyroidism.

  • Since TPP is associated with trans-cellular shifts in potassium instead of total body potassium depletion, conservative repletion of potassium is recommended to avoid rebound hyperkalemia.

DOI:
https://doi.org/10.1530/EDM-22-0358
Volume 2023: Issue 1
Open access

Follicular lymphoma of the thyroid and the role of core needle biopsy

Clara Cunha, Filipa Mousinho, Catarina Saraiva, and João Sequeira Duarte

Summary

Primary thyroid lymphoma (PTL) is a rare malignancy, accounting for less than 5% of all thyroid neoplasms. The follicular subtype is even more rare, accounting for approximately 10% of all PTL cases. We report a case of a 64-year-old woman, who presented with a rapidly growing goitre with mass effect and B symptoms. She had a history of Hashimoto’s thyroiditis and her thyroid ultrasound revealed diffuse goitre with a dominant nodule (56 × 63 × 60 mm) within the right thyroid lobe. Ultrasound-guided percutaneous fine-needle aspiration of the right thyroid nodule was classified as benign, according to Bethesda System, with lymphocytic thyroiditis. A CT scan of the neck showed diffuse enlargement of the thyroid gland extending towards the anterior mediastinum with tracheal deviation and lymphadenopathy within levels VII and right II–IV. The core needle biopsy of the right thyroid nodule revealed a follicular non-Hodgkin’s B cell lymphoma with a Ki67 of 60%. According to the Ann Arbor staging system, she was at stage IIIE. She underwent chemotherapy with R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone) with remarkable clinical improvement and is currently in remission 2 years after the diagnosis. PTL is an extremely rare malignancy that usually arises in a lymphocytic thyroiditis background, presenting as a rapidly enlarging goitre, which can lead to compressive symptoms or airway comprise.

Learning points

  • Primary thyroid lymphoma (PTL) is a rare malignancy, accounting for less than 5% of thyroid neoplasms.

  • PTL should be suspected when a patient presents with a rapidly enlarging goitre, especially in the setting of Hashimoto’s thyroiditis.

  • Fine-needle aspiration has a limited capacity for PTL diagnosis due to similar cytomorphological features of lymphoma with thyroiditis. Therefore, in case of clinical suspicion and if fine needle aspiration fails to diagnose PTL, a tissue biopsy should be performed.

  • Treatment is dependent on both the stage and histology of PTL. Chemotherapy and local radiotherapy remain the mainstay treatment for PTL.

DOI:
https://doi.org/10.1530/EDM-21-0196
Volume 2023: Issue 1
Open access

A rare case of severe bilateral Graves’ orbitopathy involving an anophthalmic socket

Mudassir Ali, Mona Abouzaid, Lucy Clarke, Gordon Lau, Anna Mitchell, Catherine Napier, and Simon Pearce

Summary

This is a report of a rare case of Graves’ hyperthyroidism associated with severe bilateral Graves’ orbitopathy, in a patient with an anophthalmic eye socket. On clinical review her prosthetic eye (left eye) was tilting upwards, along with worsening of Graves’ orbitopathy (GO) in the only seeing eye. As she refused IV glucocorticoids, she was offered rituximab which only caused a transient improvement in the clinical activity score of the eye. She had persistent right upper lid retraction of 6 mm, associated with lagophthalmos. To protect her seeing eye from corneal ulceration, the patient received a botulinum toxin injection to the right upper eyelid to induce blepharoptosis as an interim measure prior to right upper eyelid blepharotomy in April 2021. This patient remains biochemically euthyroid on block and replace therapy and her TRAb level is falling over time. Treatment for active GO is ongoing and the patient required a redo blepharotomy for painful corneal exposure in the right eye.

Learning points

  • Graves’ orbitopathy (GO) does not actually primarily affect the eyeball itself but the orbital contents as well.

  • Patients with severe GO in an only seeing-eyed patient should be referred early to a multidisciplinary Joint Thyroid Eye clinic for expert review and management.

  • Patient outcomes including sight loss are likely to be improved by the extended range of medical and surgical treatment modalities available at specialist clinics treating GO, including the use of immunomodulatory drugs like rituximab or teprotumumab.

DOI:
https://doi.org/10.1530/EDM-22-0341
Volume 2023: Issue 1
Open access

De novo purely prostatic large-cell neuroendocrine carcinoma with thyroid and adrenal metastases

Evangelos Karvounis, Ioannis Zoupas, Dimitra Bantouna, Rodis D Paparodis, Roxani Efthymiadou, Christina Ioakimidou, and Christos Panopoulos

Summary

Large-cell neuroendocrine carcinoma (LCNEC) is a rare neuroendocrine prostatic malignancy. It usually arises after androgen deprivation therapy (ADT), while de novo cases are even more infrequent, with only six cases described. The patient was a 78-year-old man with no history of ADT who presented with cervical lymphadenopathy. Diagnostic approaches included PET/CT, MRI, CT scans, ultrasonography, biopsies, and cytological and immunohistochemical evaluations. Results showed a poorly differentiated carcinoma in the thyroid gland accompanied by cervical lymph node enlargement. Thyroid surgery revealed LCNEC metastasis to the thyroid gland. Additional metastases were identified in both the adrenal glands. Despite appropriate treatment, the patient died of the disease. De novo LCNEC of the prostate is a rare, highly aggressive tumor with a poor prognosis. It is resistant to most therapeutic agents, has a high metastatic potential, and is usually diagnosed at an advanced stage. Further studies are required to characterize this tumor.

Learning points

  • De novo LCNECs of the prostate gland can metastasize almost anywhere in the body, including the thyroid and adrenal glands.

  • LCNECs of the prostate are usually associated with androgen-depriving therapy, but de novo cases are also notable and should be accounted for.

  • Further studies are required to fully understand and treat LCNECs more effectively.

DOI:
https://doi.org/10.1530/EDM-22-0301
Volume 2022: Issue 1
Open access

Rare distant metastases to pancreas, liver, and lung as initial presentation of mixed tall cell and columnar cell variants of papillary thyroid cancer

Cody Harper, James Michael, Tarek Rahmeh, and Vicki Munro

Summary

The most common sites of distant metastases of papillary thyroid carcinoma (PTC) are lung and bone. Widespread distant metastases of PTC are rare and associated with poor overall prognosis. Metastases to sites such as liver and pancreas are extremely rare, and literature is sparse on overall survival. In this report, we present a 57-year-old man whose initial presentation of PTC was with pancreatic, liver, and lung metastases, and subsequently developed metastases to bone and brain. He underwent a total thyroidectomy, neck dissection, and tracheal resection. Pathology revealed a predominant columnar cell variant PTC with focal areas of tall cell variant, and genomic sequencing showed both PIK3CA and BRAF gene mutations. Radioactive iodine ablation with I-131 did not show any uptake in metastatic sites and he had progression of the metastases within 6 months. Therefore, therapy with lenvatinib was initiated for radioactive iodine refractory disease. Our patient has tolerated the lenvatinib well, and all his sites of metastases decreased in size. His liver and pancreatic lesions took longer to respond but showed response 6 months after initiation of lenvatinib, and he remains on full dose lenvatinib 18 months into treatment.

Learning points

  • Papillary thyroid carcinoma (PTC) usually metastasizes to lung and bone but can rarely occur in many other sites.

  • Patients with distant metastases have significantly worse long-term prognosis.

  • Lenvatinib can be an effective treatment of radioactive iodine refractory PTC with rare sites of distant metastases.

  • Lenvatinib can be an effective treatment of PTC with BRAF V600E and PIK3CA mutation.

DOI:
https://doi.org/10.1530/EDM-22-0307
Volume 2022: Issue 1
Open access

Papillary follicular variant thyroid cancer in a malignant struma ovarii: a report of a rare case

Omayma Elshafie, Samir Hussein, Moza Al Kalbani, Aisha Al Hamadani, Abir Bou Khalil, and Nicholas Woodhouse

Summary

A 33-year-old female presented in 2013 with left flank pain. Ultrasound and MRI pelvis showed a complex mass 9 × 7 cm arising from the left ovary suggestive of ovarian torsion. She underwent a laparoscopic cystectomy, but the patient was lost to follow-up. Three years later, she presented with abdominal distension. Ultrasound and CT scan revealed a solid left ovarian mass with ascites and multiple peritoneal metastasis. Investigations showed elevated CA 125, CA 19-9. Ovarian malignancy was suspected. She underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy on November 2016. The histopathology confirmed a well-differentiated thyroid cancer of ovarian origin with features of a papillary follicular variant without evidence of ovarian cancer and the thyroglobulin (Tg) level was elevated, more than 400 consistent with the diagnosis of malignant struma ovarii. The follow-up post-surgery showed normalization of CA 125, CA 19-9 and Tg. The patient underwent total thyroidectomy on January 2017. The histology was benign excluding thyroid cancer metastases to the ovary. She was started on thyroxine suppression, following which she received two ablation doses 131iodine (131I) each 5.3 GBq. The Tg remains slightly elevated at less than 10. 131I WBS showed no residual neck uptake and no distant avid metastasis. She was planned for molecular analysis which may indicate disease severity. We d