Endocrinology, Diabetes and Metabolism Case Reports最新文献

{"title":"Bilateral adrenal masses and adrenal insufficiency: a rare case of primary adrenal lymphoma.","authors":"Aya Eladl, Maria Michaelidou, Adam Gibb, Faye Sharpley, Safwaan Adam","doi":"10.1530/EDM-25-0148","DOIUrl":"10.1530/EDM-25-0148","url":null,"abstract":"<p><strong>Summary: </strong>Primary adrenal lymphoma (PAL) is a rare malignancy typically considered in patients presenting with features of adrenal insufficiency and bilateral adrenal gland enlargement. Early diagnosis and differentiation from other causes of bilateral adrenal masses are essential to guide appropriate management. Prompt initiation of chemotherapy can significantly improve survival outcomes. We present the case of a 72-year-old patient with adrenal insufficiency and imaging-confirmed large bilateral adrenal masses with widespread lymph node involvement. Core biopsy of the adrenal mass confirmed high-grade diffuse large B-cell lymphoma (DLBCL), consistent with a diagnosis of PAL. She was initially managed with systemic chemotherapy with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone (R-CHOP), achieving a complete metabolic response. Two months later, she presented with relapsed central nervous system disease and died despite intrathecal cytarabine and methotrexate chemotherapy. Given the rarity of this condition, we use the case to illustrate and discuss key aspects of PAL, including demographics, pathogenesis, diagnosis, management, and prognosis.</p><p><strong>Learning points: </strong>PAL is a rare but important diagnosis to consider in patients presenting with bilateral adrenal masses and adrenal insufficiency, especially in the absence of a known primary. In this case, the patient presented repeatedly with constitutional symptoms before the diagnosis was made through imaging. Whether an earlier diagnosis would have changed the clinical outcome remains unclear. This suggests that early imaging is important to initiate the diagnostic and management cascade in patients presenting with persistent, unexplained symptoms. Following exclusion of phaeochromocytoma, early biopsy and histopathological confirmation is crucial for accurate diagnosis and guiding management. Immunochemotherapy is the mainstay of treatment and may improve survival even in the setting of widespread disease. CNS involvement is important to exclude through MR scan of the brain and CSF sampling. Further research into predictors of recurrence and CNS relapse may improve long-term outcomes in PAL.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12936811/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147285419","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":"Bilateral pheochromocytoma as a late presentation of neurofibromatosis type 1.","authors":"Helena Urbano Ferreira, Maria Luísa Sacramento, Juliana Gonçalves, Elisabete Rios, Joana Queirós, Sandra Belo","doi":"10.1530/EDM-25-0056","DOIUrl":"10.1530/EDM-25-0056","url":null,"abstract":"<p><strong>Summary: </strong>Neurofibromatosis type 1 (NF1) is an autosomal dominant condition predisposing to tumors, including pheochromocytomas and paragangliomas. Reported penetrance is close to 100%, but clinical presentation is highly variable. We present a case of a 79-year-old woman with an atypical and late presentation of NF1 with bilateral pheochromocytomas. She presented with long-standing abdominal pain. Her medical history included takotsubo cardiomyopathy and two episodes of intraoperative cardiogenic shock, 12 and 19 years before. A CT-scan revealed a 61 mm mass in the left adrenal gland (spontaneous density of 39 HU (hounsfield units)) and a 12 mm mass in the right adrenal gland (43 HU). The MIBG (metaiodobenzylguanidine) scan demonstrated high uptake in the left adrenal gland lesion. Urinary fractionated metanephrines were elevated. She underwent a left adrenalectomy, and pathology findings revealed a composite pheochromocytoma-ganglioneuroma. Genetic testing disclosed a pathogenic variant in the NF1 gene. After surgery, urinary fractionated metanephrines normalized but became elevated again one year later. She underwent a right adrenalectomy, and pathology confirmed a 'typical' pheochromocytoma. Other than bilateral pheochromocytoma, the patient had no other clinical manifestations of NF1, including café-au-lait macules or cutaneous neurofibromas. This case highlights the importance of offering genetic testing to all patients with pheochromocytoma, which may reveal cases of NF1 with subtler and atypical clinical presentation.</p><p><strong>Learning points: </strong>Genetic testing should be offered to all patients with pheochromocytoma. Bilateral pheochromocytomas should raise suspicion for an underlying genetic syndrome, even in elderly patients or those without a known family history. Some patients with neurofibromatosis type 1 (NF1) may have a later and subtler presentation, including isolated pheochromocytoma.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12921389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147285469","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":"Nutrient and endocrine factors affecting impaired growth in pediatric mitochondrial diseases.","authors":"Hideaki Yagasaki, Hiromune Narusawa, Daisuke Watanabe, Fumikazu Sano, Kaoru Fujioka, Sonoko Mizorogi, Yoshimi Kaga, Takeshi Inukai","doi":"10.1530/EDM-25-0140","DOIUrl":"10.1530/EDM-25-0140","url":null,"abstract":"<p><strong>Summary: </strong>Mitochondrial diseases cause systemic failure of energy production and can manifest as various disorders of hormone production and secretion from endocrine organs. These effects can prevent normal growth in children, resulting in adults of short stature. We therefore explored the nutritional and endocrinological status of pediatric mitochondrial disease patients with impaired growth. Four Japanese patients with genetically diagnosed mitochondrial disease were studied (one male and three females, aged 4-22 years). The age of onset ranged from 0 months to 7 years, and the causal genes identified were mtDNA, PDHA1, and NARS2 (in two sibling patients). Two patients were diagnosed with small for gestational age at birth, and their current height standard deviation scores ranged from -1.9 SD to -6.4 SD. Mitochondrial diseases can present as impaired growth with dysfunction of various organs, depending on the causal gene and the degree of heteroplasmy. Our patients had demonstrated low T3 syndrome and reduced IGF1 levels, which appeared to be influenced by impaired nutritional status. These findings emphasize the need for careful monitoring of growth trajectories alongside nutritional and endocrine evaluations to improve clinical management.</p><p><strong>Learning points: </strong>Mitochondrial diseases can disrupt endocrine function involving the GH-IGF1 axis and the thyroid and gonadal systems, leading to impaired growth during childhood. Patients with early-onset mitochondrial disease tend to experience severe symptoms and pronounced growth impairment. Children with mitochondrial diseases often show low IGF1 levels, low T3 syndrome, and delayed bone age, reflecting endocrine dysfunction commonly observed in chronic systemic diseases and the further influence of suboptimal nutritional status.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12921390/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147285448","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":"Diabetic ketoacidosis as the initial presentation of hepatogenous diabetes: a first reported case.","authors":"Mhd Kutaiba Albuni, Shahem Abbarh, Noheir Ashraf Ibrahem Fathy Hassan, Bisher Sawaf, Ashraf I Ahmed, Yusuf Hallak, Muaataz Azzawi","doi":"10.1530/EDM-25-0088","DOIUrl":"10.1530/EDM-25-0088","url":null,"abstract":"<p><strong>Summary: </strong>Hepatogenous diabetes, a secondary form of diabetes arising from chronic liver disease, particularly cirrhosis, is a well-documented complication. However, diabetic ketoacidosis (DKA) in the context of hepatogenous diabetes has not been reported in the literature. We report the case of a 60-year-old male with alcoholic liver cirrhosis and no prior history of diabetes who presented with altered mental status and was diagnosed with DKA. Initial lab tests revealed severe hyperglycemia, high-anion gap metabolic acidosis, and an elevated HbA1C of 10.2%, a significant increase from 5.2% five months earlier. The patient was managed with insulin and lactulose, resulting in clinical improvement. Follow-up revealed normalization of HbA1C and a reduction in insulin requirements. This is the first documented case of DKA as the initial presentation of hepatogenous diabetes, emphasizing the need for heightened awareness and further research into its clinical manifestations and management.</p><p><strong>Key clinical messages: </strong>DKA can be the first clinical manifestation of hepatogenous diabetes, even in patients with normal HbA1C and no prior diabetes history. HbA1C is an unreliable marker for diagnosing diabetes in cirrhotic patients due to shortened red blood cell lifespan; OGTT should be considered when hepatogenous diabetes is suspected despite normal glycemic markers. Subclinical infections can precipitate DKA in cirrhosis through stress-induced insulin resistance.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12921391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147285460","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":"Health check revealed elevation of creatine kinase related to hypothyroidism.","authors":"Xiaoqing Luo, Yamei Quan, Gaodi Luo","doi":"10.1530/EDM-25-0123","DOIUrl":"10.1530/EDM-25-0123","url":null,"abstract":"<p><strong>Summary: </strong>It is relatively rare to find a significant increase in creatine kinase (CK) related to hypothyroidism through a health examination. This case report describes an asymptomatic adult patient in whom an asymptomatic elevation of serum CK was discovered incidentally during a routine health check. The patient reported no significant muscle weakness, pain, or other classic symptoms of proximal myopathy or hypothyroidism. A comprehensive diagnostic workup was initiated to investigate the common causes of high CK level, including cardiac injury, strenuous exercise, statin use, and inflammatory myopathies, all of which were excluded. Thyroid function tests revealed severe primary hypothyroidism with significantly elevated thyroid-stimulating hormone (TSH; >100 mIU/L) and decreased free thyroxine levels. A diagnosis of hypothyroid myopathy was established. Upon initiation of levothyroxine replacement therapy, the patient's thyroid function normalized, and this was followed by a complete normalization of the serum CK level on subsequent follow-up. This case highlights that hypothyroidism is an important, reversible, notable, and treatable cause of an asymptomatic unexplained CK elevation, particularly in the context of severe biochemical hypothyroidism. It underscores the critical importance of including thyroid function tests in the routine differential diagnosis of any unexplained high CK level, even in the absence of overt clinical myopathic symptoms or recognized signs of hypothyroidism. For clinicians and general practitioners interpreting routine health screening results, this case serves as a vital reminder that a simple thyroid function test can prevent unnecessary and costly investigations and lead to the correct diagnosis and effective treatment.</p><p><strong>Learning points: </strong>In asymptomatic individuals undergoing routine health screening, an isolated elevation of creatine kinase (CK) may be an early biochemical indicator of underlying hypothyroidism, warranting simple thyroid function testing. This case underscores the public health value of routine biochemical panels that include CK, as they can identify individuals with subclinical endocrine dysfunction before the development of overt clinical disease. For primary care and preventive medicine physicians, integrating thyroid function tests into the initial workup for incidentally discovered hyperCKemia is a cost-effective strategy that can prevent unnecessary specialist referrals and invasive investigations.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12921388/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147285479","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":"Progression of diabetic retinopathy during pregnancy in a woman with ABCC8-MODY.","authors":"Patrick McCluskey, Mairéad T Crowley, Cosmina Barac, Maria Kennelly, Maria M Byrne","doi":"10.1530/EDM-25-0149","DOIUrl":"10.1530/EDM-25-0149","url":null,"abstract":"<p><strong>Summary: </strong>Activating mutations in the ABCC8 gene are extremely rare and cause ABCC8-MODY. The phenotype is variable with onset of diabetes in childhood/early adulthood. Retinopathy is the most common reported complication. We describe a 31-year-old primigravida woman referred to and seen at our antenatal ambulatory diabetes clinic at 6 weeks plus 5 days gestation. She had a strong family history of diabetes and was diagnosed at the age of 11 years. Genetic testing revealed an activating pathogenic c.4139G>A variant in the ABCC8 gene. She was managed with glibenclamide, sitagliptin, and dapagliflozin. Her complications included mild bilateral non-proliferative retinopathy and necrobiosis lipoidica. Her BMI was 19 kg/m2, and HbA1c was 68 mmol/mol. Oral agents were discontinued, and insulin therapy was commenced. At 22 weeks gestation, routine retinal screening identified progression to bilateral active proliferative diabetic retinopathy (time in range for pregnancy (TIRp) 68%, HbA1c 39 mmol/mol). She received four sessions of panretinal photocoagulation (PRP) bilaterally between 22 and 33 weeks gestation. There was no associated loss of vision or nephropathy. TIRp was ≥70% for the remainder of the pregnancy. She delivered a 3.9 kg unaffected female infant at 38 weeks via elective caesarean section without maternal or neonatal complications. Bilateral active proliferative retinopathy persisted up to 61 weeks postnatally and required additional PRP. Forty-six weeks post-partum, after ceasing breastfeeding, insulin was switched to glibenclamide and dapagliflozin. This is the first case report of rapid progression of clinically significant diabetic retinopathy during pregnancy in a woman with ABCC8-MODY. This is an unusual finding as there is a relatively low risk of significant progression of diabetic retinopathy in women with type 2 diabetes during pregnancy.</p><p><strong>Learning points: </strong>Rapid progression of diabetic retinopathy during pregnancy is an uncommon complication in women with type 2 diabetes. This woman with ABCC8-MODY developed rapidly progressive clinically significant diabetic retinopathy without nephropathy during pregnancy. There is a paucity of literature regarding pregnancy-related complications of ABCC8-MODY. This case highlights the risks of end organ disease in a rare form of diabetes.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12899314/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146182847","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":"Reversibly reduced lipoprotein lipase in APOA5 c.553G>T-related hypertriglyceridemia successfully treated with pemafibrate.","authors":"Shozo Miyauchi, Yuji Utsunomiya, Masashi Okamoto, Kazuyuki Akesaka, Keizo Ono, Yasuhiko Hara, Masumi Miyazaki, Hironobu Nakaguchi, Teruki Miyake, Shinya Furukawa, Osamu Ebisui, Yoichi Hiasa, Bunzo Matsuura","doi":"10.1530/EDM-25-0084","DOIUrl":"10.1530/EDM-25-0084","url":null,"abstract":"<p><strong>Summary: </strong>We report the case of a 47-year-old woman with severe hypertriglyceridemia due to a homozygous APOA5 c.553G>T (p.Gly185Cys) mutation. She presented with markedly elevated triglyceride levels (TG, 1,047 mg/dL) that were unresponsive to lifestyle modifications. Lipoprotein fractionation revealed increased chylomicrons (CMs, 21%) and very-low-density lipoprotein (35%), consistent with type V hyperlipoproteinemia. Secondary causes, such as diabetes, alcohol intake, and hypothyroidism, were excluded. The post-heparinization lipoprotein lipase (PH-LPL) level was reduced (104 ng/mL), indicating impaired lipolysis. Genetic testing revealed no pathogenic variants in LPL or other major genes related to triglyceride metabolism. A homozygous APOA5 c.553G>T variant was identified. Pemafibrate (0.2 mg/day), a selective PPARα modulator (SPPARMα), was initiated. After 2 months, the blood lipid levels had markedly improved, with the complete disappearance of CMs, and the PH-LPL level had normalized to 173 ng/mL. This case highlights the potential pathogenic role of APOA5 mutations in LPL-related hypertriglyceridemia. Furthermore, it demonstrates the multifaceted therapeutic effects of pemafibrate, suggesting a potential role for SPPARMα therapy in the management of hereditary hypertriglyceridemia.</p><p><strong>Learning points: </strong>Homozygous APOA5 mutations can cause reduced LPL protein levels, leading to severe hypertriglyceridemia with elevated CMs and VLDL. Pemafibrate may improve both LPL levels and lipid profiles, even in cases with reduced LPL protein and chylomicronemia. ApoA5-related chylomicronemia can resemble familial chylomicronemia syndrome but may respond to therapies such as pemafibrate, highlighting the importance of accurate genetic diagnosis.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12884878/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146221360","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":"Acute-onset type 1 diabetes in an older patient with severe hypothermia and diabetic ketoacidosis (pH 6.84) triggered by traumatic hemothorax.","authors":"Hono Kawashima, Mayu Watanabe, Momoka Hasegawa, Akihiro Katayama, Tomoko Yamanoi, Masaya Takeda, Satoshi Nogami, Kazuyuki Hida","doi":"10.1530/EDM-25-0099","DOIUrl":"10.1530/EDM-25-0099","url":null,"abstract":"<p><strong>Summary: </strong>A 77-year-old Japanese woman with a history of spinocerebellar degeneration, recently diagnosed with mild glucose intolerance managed by diet, sustained blunt chest trauma from a fall 7 days before admission. Three days prior, she developed general fatigue, thirst, and polydipsia. On arrival, she was unconscious, with unmeasurable blood pressure; heart rate of 112 beats/minute; and rectal temperature of 28°C. She presented with glucose levels of 1,125 mg/dL; β-hydroxybutyrate of 13,778 μmol/L; and arterial blood pH, 6.84, indicating severe diabetic ketoacidosis (DKA), likely triggered by traumatic hemothorax, and exhibited markedly elevated CA19-9 levels. External rewarming therapy was initiated along with vasopressor support, fluid resuscitation, continuous intravenous insulin infusion, and bicarbonate administration; subsequently, she regained consciousness. C-peptide depletion and positive islet-associated autoantibodies confirmed acute-onset type 1 diabetes mellitus. Although the CA19-9 level gradually decreased during hospitalization, it remained persistently above the reference range. Comprehensive imaging studies revealed no malignancy. Elevated CA19-9 levels were attributable to lung injury associated with traumatic hemothorax and multiple hepatic cysts. On hospital day 5, she was transferred to a general ward and resumed oral intake. Given the sustained improvement in glycemic control, she was transferred to another facility on hospital day 32. We report a rare case of acute-onset type 1 diabetes in an older patient who survived severe hypothermia and DKA secondary to traumatic hemothorax through intensive medical management. Appropriate and timely treatment can lead to favorable outcomes even in older patients with severe DKA and hypothermia. Furthermore, type 1 diabetes should be considered in elderly individuals presenting with newly developed glucose intolerance.</p><p><strong>Learning points: </strong>Acute-onset type 1 diabetes mellitus can occur in older patients and may present with life-threatening complications, such as severe diabetic ketoacidosis (DKA) and hypothermia. Traumatic events, such as hemothorax from blunt chest trauma, can precipitate DKA even in patients with previously mild glucose intolerance. Intensive supportive care, including rewarming, insulin infusion, fluid resuscitation, vasopressors, and bicarbonate, can lead to recovery without the need for invasive interventions, such as CHDF or ECLS. Markedly elevated CA19-9 levels in the absence of malignancy may result from non-neoplastic conditions, such as lung injury and hepatic cysts, emphasizing the importance of thorough differential diagnosis. Positive islet autoantibodies and depleted C-peptide levels confirmed the diagnosis of acute-onset type 1 diabetes, reinforcing the need to consider autoimmune diabetes even in older patients with new-onset hyperglycemia.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12865275/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147285413","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":"Multidisciplinary diagnosis and treatment of iatrogenic Cushing syndrome in a patient with obsessive-compulsive disorder.","authors":"Ruixue Sun, Shuang Liu, Hong Han, Yunying Cui, Haotian Chen, Kexin Xu, Nan Wu, Yanping Duan, Jing Wei, Xia Hong","doi":"10.1530/EDM-25-0055","DOIUrl":"10.1530/EDM-25-0055","url":null,"abstract":"<p><strong>Summary: </strong>Iatrogenic Cushing syndrome caused by topical corticosteroid preparations is only reported in infants. We describe a case in a patient with obsessive-compulsive disorder: the patient had tic disorder and obsessive-compulsive disorder, and the condition was under stable control. After the appearance of oral ulcers, the patient uncontrollably used a large amount of chlorhexidine dexamethasone membranes, resulting in iatrogenic Cushing syndrome. The fatty liver and abnormal liver function associated with Cushing syndrome led to the discontinuation of fluvoxamine and aripiprazole for obsessive-compulsive disorder. The patient's tic and compulsive symptoms worsened, and he repeatedly bit his tongue. Under multidisciplinary diagnosis and treatment in emergency department, endocrinology department, psychological department, and dentistry department, both the mental and physical symptoms were controlled and the patient's prognosis was satisfactory. Genetic testing revealed no clear abnormalities that could explain the patient's phenotype. Therefore, medication use on obsessive-compulsive disorder patients with somatic diseases should be monitored. Multidisciplinary cooperation, especially consultation liaison psychiatry in general hospitals, is essential for the diagnosis and treatment of patients with both physical and mental symptoms in general hospitals.</p><p><strong>Learning points: </strong>It is necessary to monitor medication use when treating OCD patients with somatic diseases. Multidisciplinary diagnosis and treatment in general hospitals are advantageous or even the only option for improving the prognosis of comorbid mental disorders and somatic diseases. Consultation liaison with psychiatry should be strengthened in general hospitals, especially in the diagnosis and treatment of diseases that are often complicated with psychological symptoms, such as in the endocrinology department.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12865273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146120417","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":"A nonfunctional adrenal incidentaloma revealed by intestinal obstruction: metastatic adrenocortical carcinoma diagnosed by surgery.","authors":"Yasemin Keskin, Pınar Dağ, Elif Buse Güngör","doi":"10.1530/EDM-25-0083","DOIUrl":"10.1530/EDM-25-0083","url":null,"abstract":"<p><strong>Summary: </strong>This case report describes an 84-year-old male patient who presented with symptoms of intestinal obstruction and was subsequently diagnosed with metastatic adrenocortical carcinoma (ACC), a rare and aggressive endocrine malignancy. The patient arrived at the emergency department with abdominal pain, nausea, vomiting, and bloating. Imaging studies revealed a segmental ileal mass suggestive of obstruction and a large (12 × 8 cm) adrenal mass. Hormonal assays indicated a nonfunctional adrenal incidentaloma. Due to persistent obstruction, the patient underwent surgical resection of the terminal ileum and a left adrenalectomy. Histopathological examination confirmed ACC with metastasis to the small intestine. This rare presentation is notable because ACC typically manifests with hormone excess or mass effect symptoms, and intestinal metastasis causing mechanical obstruction is exceedingly uncommon. Radiologically, the adrenal mass lacked classic features of ACC, contributing to initial diagnostic uncertainty. Postoperatively, the patient recovered uneventfully and was started on mitotane therapy after PET imaging confirmed residual disease and para-aortic lymph node metastasis. This report underscores the importance of thorough evaluation of large adrenal incidentalomas, even if nonfunctional, and highlights intestinal obstruction as a rare but possible initial presentation of metastatic ACC. It contributes to the limited literature documenting atypical clinical manifestations of this rare tumor.</p><p><strong>Learning points: </strong>Adrenocortical carcinoma (ACC) is a rare and aggressive malignancy that is frequently diagnosed at an advanced or metastatic stage. Nonfunctional adrenal incidentalomas ≥4 cm in size warrant comprehensive hormonal evaluation and imaging, followed by multidisciplinary assessment due to the potential risk of malignancy. In this case, despite benign-appearing radiological features, histopathological examination confirmed that the adrenal mass was a metastatic adrenocortical carcinoma. R0 resection remains the only potentially curative treatment for ACC; in selected cases, synchronous resection of metastatic lesions may be necessary. This case highlights a previously undocumented presentation of ACC manifesting as small bowel obstruction due to intestinal metastasis, thereby expanding the clinical spectrum of this rare entity.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12865276/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146087447","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}