Case Reports in Endocrinology最新文献

Thyrotoxicosis during pregnancy is rare but can have severe adverse consequences for the mother or foetus if left undiagnosed and untreated. It can be caused by an underlying thyroid disease or develop as gestational transient thyrotoxicosis. Molar pregnancy stands out as a pathological condition characterized by abnormal trophoblastic cell growth, which can manifest in benign or malignant forms, and is diagnosed with a disproportionate elevation of β-hCG (beta-human chorionic gonadotrophin) and specific features on ultrasonography including absent sac and large multicystic or honeycomb appearance. A pronounced increase in β-hCG levels can trigger hyperthyroidism, due to the structural resemblance between β-hCG and thyroid-stimulating hormone (TSH), although the thyrotrophic effects of β-hCG could vary between patients diagnosed with gestational trophoblastic disease (GTD). In this report, we present two cases (Patient 1: 43 years, Patient 2: 31 years) who came to emergency department following a history of vaginal spotting, palpitations, and hyperemesis. In both patients, blood tests indicated disproportionately elevated β-hCG levels along with high levels of Free T4 (FT4) and Free T3 (FT3), as well as suppressed TSH levels. Ultrasonography showed nonviable products of conception with large multicystic hemorrhagic lesions and empty gestational sacs, thereby confirming GTD. The Burch-Wartofsky Point Scale scores were 20 and 15 points, respectively, suggesting that they were less likely to be in thyroid storm at presentation. Antithyroid medications were administered, followed by evacuation of the products of conception. Postoperatively, their thyroid function was normalized. These cases underscore the importance of ruling out thyroid storm, monitoring thyroid function, and treating hyperthyroidism appropriately before undergoing surgical treatment. It is also important to consider the variability in the thyrotrophic effects of β-hCG among individuals diagnosed with GTD. In addition to monitoring free thyroid hormone levels, it is crucial to consider clinical symptoms to effectively manage such cases.

The combination of clinical characteristics and diagnostic exams including imaging, laboratory, and molecular tests help in the differential diagnosis of retroperitoneal lesions. We report a 41-year-old male with a metastatic retroperitoneal lesion with atypical characteristics, displaying pathological findings consistent with both nonsecretory pheochromocytomas/paragangliomas and adrenal cortex carcinoma. The patient was examined for abdominal pain, weight loss, and hypertension. Abdominal computed tomography showed a 21 × 8 × 10-cm right retroperitoneal mass. He was initially diagnosed as pheochromocytoma/paraganglioma (PHEO/PGL). However, the diagnosis was later changed to adrenocortical carcinoma based on histopathological features of the metastatic lesions and the findings of normal urinary levels of catecholamines/metanephrines. Systemic chemotherapy and abdominal radiotherapy were performed, in addition to multiple surgical resections, with no satisfactory response. The indolent course of the disease and minimal impact on the patient's performance status led to a genetic evaluation which resulted in the identification of a germline mutation in the succinate dehydrogenase complex subunit B (SDHB). An immunohistology review of previous slides was consistent with the hypothesis of a neuroendocrine tumor. Forty percent of the patients with PHEO/PGL have an underlying germline mutation. SDHB mutation is frequently associated with metastatic disease and dominant secretion of noradrenaline and/or dopamine. In addition to the metastatic disease, few cases with the mutations can be a biochemically silent PHEO/PGL. We concluded that the patient presented a metastatic abdominal paraganglioma associated with an SDHB mutation and we reinforced the need to perform genetic screening for all adrenal/extra-adrenal lesions characteristic of PHEO/PGL.

The higher risk for kidney stone in patients with primary hyperparathyroidism is well-documented; stone risk in patients with normocalcemic primary hyperparathyroidism (NPHPT) remains unclear. We present a case of recurrent calcium kidney stones in a patient with severe idiopathic hypercalciuria and NPHPT. The surgical resection of the parathyroid adenoma failed to reduce kidney stone risk (based on the 24-hr urine study) and kidney stone burden (based on ultrasound). This unique case examines the impact of surgical resection of an ectopic parathyroid adenoma on stone risk in a patient with NPHPT and recurrent calcium kidney stones.

Background: Despite their important clinical benefits, immune checkpoint inhibitors (ICIs) are associated with a spectrum of side effects known as immune-related adverse events (irAEs). These can be of various organ system backgrounds, including dermatologic, pulmonary, gastrointestinal, and endocrine. Polyglandular endocrinopathies (PLEs) post-ICIs therapy has been reported in the literature; however, to our knowledge, only a few have been documented with pembrolizumab. Case Report. We present a case of a female patient who developed myxedema coma (MC) and adrenal insufficiency (AI) after 4 months of stopping pembrolizumab, a programed-cell death-1 inhibitor. The patient was clinically symptomatic and was subsequently treated with levothyroxine and hydrocortisone. Discussion. It is very important to be vigilant and alert in detecting MC and AI to avoid any mortality. Pembrolizumab's effect on inducing antitumor responses leads to a wide variety of multiorgan alterations. Its role in raising the risk of all-grade endocrine disorders has been previously highlighted along with thyroidal dysfunctions. Our patient's presentation falls within the literature-based median time for hypothyroidism and AI with respect to the period from the initiation of pembrolizumab. The patient's predisposition to hypothyroidism and the likelihood of intertwined manifestations of AI and hypothyroidism should always be considered in the setting of critical illness.

Conclusion: It is of high significance to explore the mechanism of action of ICIs and their side effects. PLEs can house some endocrinologic emergencies that are life threatening.

Background: Primary adrenal insufficiency is an uncommon condition that manifests as nonspecific symptoms such as fatigue, weight loss, salt craving, and hyperpigmentation. Common cardiovascular presentations of AI are hypotension, arrhythmias, and syncope. However, acute heart failure is an uncommon presentation. Case Presentation. Here, a 26-year-old man was hospitalized with vasopressor-resistant cardiogenic shock, which was finally attributed to an adrenal crisis. His past medical history was notable for Hashimoto's disease, controlled with oral levothyroxine.

Conclusion: AI should be considered among patients with cardiogenic shock who are unresponsive to conventional inotropes. Additionally, a history of autoimmune diseases may increase the suspicion of AI. Although the presentation of cardiogenic shock in a patient with undiagnosed AI is considered a rarity, delay in prompt treatment can lead to life-threatening conditions.

Background: Cribriform morular thyroid carcinoma has been recently renamed in the 2022 WHO classification as a thyroid tumor of uncertain histogenesis. The epidemiologic, pathological, and pathophysiological characteristics distinguish it from papillary thyroid carcinoma (PTC). Preoperative genetic testing plays a role in facilitating the differential diagnosis.

Methods: This report presents a confirmed case of cribriform morular thyroid carcinoma. Initially, fine-needle aspiration cytology suggested a diagnosis of PTC. However, a genetic analysis did not reveal the typical mutations associated with follicular-cell-derived neoplasms.

Results: A 31-year-old woman was found to have a thyroid nodule at the left lobe measuring 11.8 × 10.2 × 12.4 mm. Ultrasonography indicated a hypoechoic, solid nodule with regular margins. Cytology revealed a papillary structure of tall cells, leading to a PTC diagnosis. Nevertheless, the genetic analysis failed to detect mutations such as BRAF V600E, NRAS Q61R, NRAS Q61K, HRAS Q61R, or HRAS Q61K mutation or the fusion of CCDC6-RET, NCOA4-RET, PAX8-PPARG, ETV6-NTRK3, TPM3-NTRK1, IRF2BP2-NTRK1, or SQSTM1-NTRK1 in the aspirated follicular cells. The patient subsequently underwent total thyroidectomy with central lymph node dissection. Pathological examination revealed a cribriform pattern of spindle-shaped cells with morular areas. Immunohistochemical staining showed positive results for β-catenin and TTF-1, except in the morular regions, and negative results for PAX8, thyroglobulin, and BRAF (clone VE1). The diagnosis was confirmed to be cribriform morular thyroid carcinoma.

Conclusion: Significant cytological similarity exists between PTC and cribriform morular thyroid carcinoma. Preoperative genetic analysis is important to differentiate these two diseases. Cribriform morular thyroid carcinoma can be differentiated from common follicular-cell-derived tumors by the absence of typical mutations; the presence of nuclear and cytoplasmic expressions of β-catenin; the presence of TTF-1, except in morular areas; and the absence of thyroglobulin.

Mauriac syndrome is a rare disorder that occurs in patients with type 1 diabetes mellitus (T1DM) with glucose levels significantly above target, characterized by hepatomegaly, growth delay, and cushingoid features. Another distinguishing feature of Mauriac syndrome is persistent lactatemia during diabetic ketoacidosis (DKA) management. We present a case of an 18-year-old patient with T1DM who presented in DKA and then developed elevated lactate levels leading to a diagnosis of Mauriac syndrome. The cause of the persistent lactatemia is not well understood though it is likely related to glycogenic hepatopathy causing hepatomegaly, abnormalities in glucose metabolism, and subsequent inappropriate lactate production. Since the liver changes seen in Mauriac syndrome are reversible with optimal blood glucose control, these patients should be connected to intensive psychosocial and medical support to help them improve their blood glucose levels.

Production of the high-molecular-weight forms of adrenocorticotropic hormone (big-ACTH) has been reported in a small number of ectopic ACTH syndrome and ACTH-producing pituitary macroadenoma. However, perioperative changes in big-ACTH in patients with subclinical Cushing's disease have not been reported. A 63-year-old woman presented 25 × 20 × 20-mm-sized macroadenoma in the pituitary gland. Her early morning plasma ACTH and cortisol levels were 111 pg/mL and 11.6 μg/dL, respectively. Cushingoid features and diurnal variation in plasma cortisol levels were not observed. The patient's urinary free cortisol (UFC) was 59.3 μg/day. The corticotropin-releasing hormone (CRH) test showed that plasma ACTH levels were 1.5 times higher than the preload value. The overnight dexamethasone suppression test (DST) showed that the plasma cortisol level was not suppressed by 0.5 mg of dexamethasone (DEX) but was suppressed by 8 mg of DEX. Inferior pyramidal sinus sampling was consistent with Cushing's disease. Taken together, the patient was clinically diagnosed with subclinical Cushing's disease caused by an ACTH-producing pituitary adenoma. Endoscopic transsphenoidal adenomectomy was performed. In the postoperative CRH test, plasma ACTH levels showed six-fold increase. The postoperative DST showed cortisol suppression at 0.5 mg of DEX. The UFC levels decreased to 35.1 μg/day. Pituitary contrast-enhanced MRI revealed no residual tumor, and plasma ACTH and cortisol levels remained within normal ranges. Gel filtration of preoperative and postoperative plasma ACTH was performed, and a high molecular weight fraction of ACTH was detected, which markedly decreased postoperatively. The absence of Cushingoid features and the lack of significant cortisol hypersecretion in this case were thought to be due in part to big-ACTH, which has low bioactivity. By careful evaluation of laboratory and clinical findings, we identified it as a big-ACTH-producing adenoma. This is the first report of a case in which the big-ACTH transition was observed perioperative and is a valuable case.

Background: The COVID-19 pandemic has caused major impacts in various aspects of our life. In Malaysia, a Movement Control Order was imposed in March 2020. For almost two years, school going children and adolescents were not able to attend school physically, and their physical activity was confined within their room or house on most days. Case Description. We describe a case of a 14-year-old boy who was previously active in sports and sustained a low trauma fracture at the right neck of the femur following a prolonged period of extreme sedentary life along with poor dietary intake during the COVID-19 pandemic period. He underwent open reduction and screw fixation for the right neck femur fracture. He was thin with a low BMI (15.62 kg/m²) and a significant loss of muscle bulk in all limbs. Laboratory tests showed vitamin D deficiency (15.3 nmol/L) and the dual energy X-ray absorptiometry (DXA) showed a low Z-score for the total spine (-2.2) and total hip (-3.9). He was treated with activated vitamin D and vitamin D3 replacement. Sports physician was involved for individualized postoperative rehabilitation. Successive clinic visits showed remarkable improvements in physical fitness, sports participation, and normalization of vitamin D levels.

Conclusion: A high degree of suspicion is needed to rule out secondary causes in adolescents who present with unusual fragility fractures.

A 74-year-old patient with type 2 diabetes mellitus received basal-bolus insulin, insulin secretagogues, and sodium glucose transporter 2 (SGLT2) inhibitors. After immune checkpoint inhibitor treatment for lung cancer, he suffered from depressed consciousness with a urinary ketone body (3+). When all hypoglycemic treatments were discontinued, his serum blood glucose remained at 121 mg/dL. He was diagnosed with euglycemic diabetic ketosis. Endocrine loading tests revealed isolated adrenocorticotropic hormone (ACTH) deficiency as an immune-related adverse event. It was suggested that euglycemic diabetic ketosis was induced by the self-suspension of insulin and insulin secretagogues, adrenal insufficiency, SGLT2 inhibitors, and carbohydrate intake shortage.