{"title":"Riedel's Thyroiditis: Pitfalls in Diagnosis and Subsequent Complications.","authors":"R Pandev, M Khan, V Ratheesh","doi":"10.1155/2023/9989953","DOIUrl":"https://doi.org/10.1155/2023/9989953","url":null,"abstract":"<p><p>Riedel's thyroiditis is a rare disease of chronic inflammation with fibrotic infiltration of the thyroid gland and its surrounding vital structures. Due to its low incidence, there are often delays in diagnosis as it is commonly mistaken for other thyroid diseases. We report the case of a 34-year-old female patient who presented with a firm, enlarged mass in the neck, compression symptoms, and hypothyroidism. Lab tests showed elevated A-TG (thyroglobulin antibodies) and A-TPO (thyroid peroxidase antibodies) levels. Based on the disease presentation and supporting lab findings, the patient was misdiagnosed with Hashimoto's thyroiditis and treated accordingly. Yet the patient's symptoms grew progressively worse. She was discovered to have severe tracheal compression and bilateral RLN (recurrent laryngeal nerve) palsy. Tracheotomy became a necessary surgical intervention after the development of respiratory failure, but this procedure was complicated by the development of an intraoperative pneumothorax. After an open biopsy, histology revealed Riedel's thyroiditis. A new treatment was introduced, with which the patient's condition improved. However, she continued to suffer from the open tracheocutaneous fistula left by the tracheostomy, which adversely affected her everyday life. A follow-up operation was performed to close the fistula. In this case report, we discuss the consequences of misdiagnosing the patient and delaying the appropriate treatment for her disease.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2023 ","pages":"9989953"},"PeriodicalIF":1.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10122592/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9391105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Sitosterolemia: A Case Report and a Concise Literature Review.","authors":"Moeber M Mahzari","doi":"10.1155/2023/4451595","DOIUrl":"https://doi.org/10.1155/2023/4451595","url":null,"abstract":"<p><strong>Background: </strong>Sitosterolemia is a relatively rare metabolism lipid disorder, with about 110 cases worldwide and only a few known cases from the Middle East. Sitosterolemia is characterized by excessive uptake of phytosterols and their deposition in various tissues, leading to complications. Mutations in the ABCG5 and ABCG8 genes are associated with pathological changes in sitosterolemia. <i>Case Presentation</i>. An adult patient from Saudi Arabia with dyslipidemia who did not respond to statin therapy. Based on genetic testing, the patient was eventually diagnosed with sitosterolemia. Ezetimibe significantly improved his cholesterol levels.</p><p><strong>Conclusion: </strong>The diagnosis of sitosterolemia is confirmed by the detection of high-phytosterol levels and pathological mutation in the ABCG5 and ABCG8 genes. Treatment of sitosterolemia is based on dietary changes and drugs to inhibit cholesterol absorption, such as ezetimibe.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2023 ","pages":"4451595"},"PeriodicalIF":1.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017212/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9152970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Parackrama Karunathilake, Arun Rajaratnam, W K S Kularatne
{"title":"A Rare Observation of Brachymetacarpia and Brachymetatarsia in a Patient with Primary Idiopathic Hypoparathyroidism.","authors":"Parackrama Karunathilake, Arun Rajaratnam, W K S Kularatne","doi":"10.1155/2023/4149677","DOIUrl":"https://doi.org/10.1155/2023/4149677","url":null,"abstract":"<p><p>Brachymetacarpia and brachymetatarsia are unique clinical entities associated with numerous rare conditions. Primary hypoparathyroidism is distinct from pseudohypoparathyroidism and pseudopseudohypoparathyroidism by lacking skeletal changes such as short metacarpals or metatarsals. Here, we present a case of a 64-year-old patient with brachymetacarpia and brachymetatarsia presented with hypocalcemic symptoms and signs, bilateral cataracts, and basal ganglia calcifications, subsequently diagnosed with idiopathic primary hypoparathyroidism. This is a rare case describing such an infrequent observation of brachymetacarpia and brachymetatarsia in primary idiopathic hypoparathyroidism.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2023 ","pages":"4149677"},"PeriodicalIF":1.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9991468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9454335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Sodium-Glucose Transport Protein 2 Inhibitors Association with Euglycemic Diabetic Ketoacidosis.","authors":"Caroline Wojtas, Alex P Rasarmos, Naja Naddaf","doi":"10.1155/2023/6835882","DOIUrl":"https://doi.org/10.1155/2023/6835882","url":null,"abstract":"<p><p>Diabetic ketoacidosis (DKA) is a life-threatening medical emergency that occurs in both type 1 and type 2 diabetes mellitus. Here, we describe the case of a 49 year-old male patient with type 2 diabetes mellitus who presented to the emergency department with complaints of epigastric abdominal pain and intractable vomiting. He had been on sodium-glucose transport protein 2 inhibitors (SGLT2i) for 7 months. Considering the clinical exam and lab findings with a glucose level of 229, a diagnosis of euglycemic DKA was made. He was treated according to DKA protocol and discharged. The relationship between SGLT2 inhibitors and euglycemic DKA remains to be explored; given the absence of clinically significant hyperglycemia during the presentation, a delay in diagnosis may be observed. After an extensive literature review, we introduce our case presentation in the setting of gastroparesis in comparison to previous reports and suggest future improvements in terms of early clinical suspicion for euglycemic DKA.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2023 ","pages":"6835882"},"PeriodicalIF":1.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9988385/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9082420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ming Yeh Lee, Anna L Gloyn, David M Maahs, Priya Prahalad
{"title":"Management of Neonatal Diabetes due to a <i>KCNJ11</i> Mutation with Automated Insulin Delivery System and Remote Patient Monitoring.","authors":"Ming Yeh Lee, Anna L Gloyn, David M Maahs, Priya Prahalad","doi":"10.1155/2023/8825724","DOIUrl":"https://doi.org/10.1155/2023/8825724","url":null,"abstract":"<p><p>Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes. Management of hyperglycemia in neonates with subcutaneous insulin is challenging because of frequent feeding, variable quantity of milk intake with each feed, low insulin dose requirements, and high risk for hypoglycemia and associated complications in this population. We present a case of NDM in a proband initially presenting with focal seizures and diabetic ketoacidosis due to a pathologic mutation in the beta cell potassium ATP channel gene <i>KCNJ11</i> c.679G > A (p.E227K). We describe the use of continuous glucose monitoring (CGM), insulin pump, automated insulin delivery system, and remote patient monitoring technologies to facilitate rapid and safe outpatient cross-titration from insulin to oral sulfonylurea. Our case highlights the safety and efficacy of these technologies for infants with diabetes, including improvements in glycemia, quality of life, and cost-effectiveness by shortening hospital stay.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2023 ","pages":"8825724"},"PeriodicalIF":1.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10468271/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10161479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sameh Samir Elawady, Diwakar Phuyal, R. Shah, L. Mirza
{"title":"A Case of Subacute Thyroiditis following COVID-19 Infection","authors":"Sameh Samir Elawady, Diwakar Phuyal, R. Shah, L. Mirza","doi":"10.1155/2022/2211061","DOIUrl":"https://doi.org/10.1155/2022/2211061","url":null,"abstract":"Background/Objective. Since the start of the pandemic, COVID-19 has been associated with several postinfection complications. Subacute thyroiditis (SAT) is an inflammatory disorder of the thyroid that has been reported in the literature following COVID-19 infection. We report a case of SAT following COVID-19 infection. Case Report. A 33-year-old female presented with neck pain two weeks after resolution of COVID-19 infection. Her thyroid function tests together with ultrasonographic pictures were consistent with SAT. She was treated with three rounds of medrol dose pack without relief. She then required oral prednisone 40 mg per day and ibuprofen 800 mg once daily for another several weeks that eventually resulted in improvement of her symptoms. Discussion. SAT most commonly occurs in females during or after viral infection. The usual course of the disease is hyperthyroidism then hypothyroidism followed by resolution. SAT is clinically diagnosed by lab findings of decreased TSH in the setting of negative thyroid-stimulating and thyroid peroxidase antibodies. All these data are consistent with our case. Conclusion. SAT following COVID-19 infection presents with a similar clinical presentation and course as the classic form of SAT, but we should consider the fact that a high-dose corticosteroid treatment might be necessary for such patients.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"4 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89492327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Wafa Abdallah Fadle, Ali Al Reesi, Saud Al-Shabibi, Maryam Khamis Al-Badi
{"title":"Primary Hypothyroidism with Pituitary Hyperplasia in an Omani Girl","authors":"Wafa Abdallah Fadle, Ali Al Reesi, Saud Al-Shabibi, Maryam Khamis Al-Badi","doi":"10.1155/2022/3382612","DOIUrl":"https://doi.org/10.1155/2022/3382612","url":null,"abstract":"Pituitary hyperplasia secondary to primary hypothyroidism (PHPH) is uncommon in children and is reversible with thyroxine therapy. We report an Omani girl who presented at the age of 13 years and 6 months with profound primary hypothyroidism due to Hashimoto's thyroiditis and secondary pituitary hyperplasia and hyperprolactinemia. Pituitary magnetic resonance imaging confirmed the presence of pituitary hyperplasia which regressed during follow-up after the administration of thyroxine therapy. The diagnosis of PHPH is very important in both children and adults in order to avoid unnecessary brain surgery or medical treatment for a presumed pituitary mass or adenoma. To our knowledge, this patient represents the first case of an Omani child presenting with PHPH.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"46 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87718529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Central Diabetes Insipidus Induced by Acute Myeloid Leukemia with DNMT3A Mutation","authors":"P. Lakshmanan, Heena Asnani, David Knorr","doi":"10.1155/2022/2750146","DOIUrl":"https://doi.org/10.1155/2022/2750146","url":null,"abstract":"Central diabetes insipidus (CDI) is an uncommon complication of acute myeloid leukemia (AML). Patients present with polyuria either preceding or at the time of diagnosis of AML. We describe the case of a 36-year-old male who presented with a subacute onset of polyuria, polydipsia, nocturia, and fatigue. After an extensive workup, he was diagnosed with AML/CMML (chronic myelomonocytic leukemia) with a normal karyotype with DNMT3A, CBFB, and PTPN11 mutations. Further workup of the polyuria with a water deprivation test helped confirm the diagnosis of CDI along with MRI findings suggestive of hypophysitis. In this report, we analyze the clinical workup for AML and CDI and report the possibility of extramedullary leukemic infiltration associated with DNMT3A mutation, which has been reported as one of the mechanisms in the existing literature. We also discuss other theories hypothesized to cause CDI in AML patients with abnormal karyotypes. Our patient progressed to AML from CMML-2 after a cycle of decitabine, with confirmed gingival and presumed central nervous system (CNS) involvement. He is in minimal residual disease (MRD)-negative complete remission after induction with a CNS-active acute lymphoblastic leukemia-2 regimen. He also received double umbilical cord blood transplantation, conditioned with cyclophosphamide, fludarabine, thiotepa, and total body irradiation (TBI) of 4 Gy. This was complicated by engraftment syndrome for which he is currently being managed. CDI of the patient was corrected by desmopressin administration.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"13 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78498028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Prathamesh Chandrapattan, A. Jena, R. Patnayak, S. Mangaraj, Sujata Naik, Saroj Panda
{"title":"Gonadoblastoma with Dysgerminoma Presenting as Virilizing Disorder in a Young Child with 46, XX Karyotype: A Case Report and Review of the Literature","authors":"Prathamesh Chandrapattan, A. Jena, R. Patnayak, S. Mangaraj, Sujata Naik, Saroj Panda","doi":"10.1155/2022/5666957","DOIUrl":"https://doi.org/10.1155/2022/5666957","url":null,"abstract":"Gonadoblastoma is a neoplasm containing an intimate mixture of germ cells and elements resembling immature granulosa or Sertoli cells. It has been considered as in situ germ cell malignancy that can be associated with malignant components. The tumor has been reported to almost exclusively develop in various types of gonadal gene mutation syndromes, such as in pure or mixed gonadal dysgenesis and among females carrying Y chromosome material. However, it can be rarely present in normal women with 46, XX karyotype. Ovarian gonadoblastoma presenting with signs of contrasexual puberty in a young female child with normal 46, XX karyotype is an extremely rare clinical entity and seldom reported in the literature. We report a case of a nine-year-old girl child who presented with signs of virilization and contrasexual pubertal development. A detailed clinical evaluation along with supportive biochemical and radiological findings pointed to the presence of a virilizing ovarian tumor. The patient underwent right salpingo-oophorectomy, pelvic node dissection, and infracolic omentectomy. The excised tumor was confirmed to be gonadoblastoma which was overgrown by dysgerminoma on histopathological evaluation. The presence of associated malignant tumors (like dysgerminoma) should always be ruled out in cases of gonadoblastoma.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"97 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75823128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Myxedema Coma Associated with Macroprolactinoma: Case Report and Review of the Literature","authors":"Elizabeth Omoniyi, R. Robbins","doi":"10.1155/2022/1591616","DOIUrl":"https://doi.org/10.1155/2022/1591616","url":null,"abstract":"Myxedema coma is a rare life-threatening presentation of severe hypothyroidism associated with a high mortality rate. Although most cases are due to primary thyroid failure, a minority have central hypothyroidism as the underlying cause. We report the case of a 69-year-old man who presented with obtundation, hypoglycemia, and hyponatremia. The patient's initial thyroid-stimulating hormone (TSH) was within normal limits. Subsequent evaluation revealed critical anterior pituitary insufficiency due to a macroprolactinoma and a diagnosis of myxedema coma after appropriate workup The finding of a normal serum TSH should not eliminate the possibility of myxedema coma.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"263 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81709079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}