Endocrinology, Diabetes and Metabolism Case Reports最新文献

{"title":"A potential association between tirzepatide and hypercalcemia in the setting of chronic hydrochlorothiazide use.","authors":"Basil Nduma, Sai Nikhitha Malapati, Veeranna Vibhuti","doi":"10.1530/EDM-25-0067","DOIUrl":"10.1530/EDM-25-0067","url":null,"abstract":"<p><strong>Summary: </strong>Hypercalcemia is a prevalent electrolyte disturbance commonly associated with primary hyperparathyroidism, cancer, or medication adverse effects. Thiazide diuretics reduce urinary calcium excretion, increasing calcium reabsorption and hypercalcemia. Tirzepatide, a dual GIP and GLP-1 receptor agonist, is increasingly used for type 2 diabetes and obesity. While GIP/GLP-1 agonists typically have negligible effects on calcium homeostasis, the interaction between tirzepatide and thiazides remains unstudied. We report a 65-year-old female with obesity, hypertension, CKD3, and T2DM on chronic HCTZ who developed symptomatic hypercalcemia (corrected calcium: 4.58 mmol/L; normal range: 2.12-2.62 mmol/L), resulting in altered mental status days after initiating tirzepatide. PTH and vitamin D levels were low, and imaging ruled out malignancy. Discontinuation of tirzepatide/HCTZ, IV hydration, and calcitonin normalized her calcium by hospital day 4. This case highlights a potential association between HCTZ and tirzepatide in causing severe hypercalcemia. No prior reports link tirzepatide (or its combination with thiazides) to hypercalcemia. The mechanism likely involves thiazide-induced calcium reabsorption and tirzepatide's effects on bone turnover. As the use of tirzepatide and other GLP-1/GIP agonists becomes more prevalent, clinicians need to closely monitor calcium levels in thiazide-treated individuals, particularly those with CKD. Additional research is also needed to elucidate the drug's interaction with calcium metabolism.</p><p><strong>Learning points: </strong>Clinicians should be aware of the potential for severe hypercalcemia when tirzepatide is co-administered with chronic thiazide diuretics, particularly hydrochlorothiazide (HCTZ), in patients with pre-existing CKD. Tirzepatide, a dual GIP and GLP-1 receptor agonist, may influence calcium metabolism through mechanisms including increased osteoblastic activity and altered PTH regulation, especially in individuals with impaired renal clearance. Baseline and follow-up serum calcium monitoring is strongly recommended within 1-2 weeks of initiating tirzepatide in patients receiving thiazide diuretics or those with CKD. This case suggests a possible drug-drug interaction between tirzepatide and HCTZ leading to symptomatic hypercalcemia, highlighting the need for pharmacovigilance as newer agents are integrated into routine diabetes care. Severe hypercalcemia can present with nonspecific symptoms such as altered mental status, fatigue, constipation, and polyuria; clinicians should maintain a high index of suspicion in susceptible populations. Prompt cessation of the suspected offending agents, hydration, and short-term use of calcitonin can result in rapid and sustained normalization of calcium levels without the need for bisphosphonates.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145006679","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":"Challenges in the management of jaw tumor syndrome: a case report of pregnancy complicating treatment decision making.","authors":"Sofia Lopes, Alice Monsanto, Mafalda Ferreira, Mara Ventura, Luísa Ruas, Leonor Gomes","doi":"10.1530/EDM-24-0113","DOIUrl":"10.1530/EDM-24-0113","url":null,"abstract":"<p><strong>Summary: </strong>Primary hyperparathyroidism (PHPT) is a rare condition during pregnancy, but it is associated with significant maternal and fetal risks, including miscarriage, preeclampsia, and preterm birth. Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a rare genetic form of PHPT caused by mutations in the CDC73 gene. Managing PHPT during pregnancy is particularly challenging. While surgery remains the definitive treatment, it carries increased risk of complications during pregnancy. Pharmacological options are generally contraindicated or have limited safety data, limiting available therapeutic strategies. We report the case of a 19-year-old woman with genetically confirmed HPT-JT syndrome who became pregnant while awaiting parathyroidectomy. Given the stability of serum calcium levels, absence of complications, and concerns regarding adherence to follow-up, a conservative management strategy was adopted, consisting of oral hydration, dietary calcium restriction, and close monitoring throughout gestation. The pregnancy progressed uneventfully, and a successful postpartum parathyroidectomy led to biochemical normalization. This case illustrates the challenges in managing PHPT during pregnancy and supports the potential safety of individualized conservative approaches in selected cases with stable disease.</p><p><strong>Learning points: </strong>Primary hyperparathyroidism (PHPT) during pregnancy is rare but may be associated with significant maternal and fetal risks; individualized management is essential. While parathyroidectomy is the only definitive treatment for PHPT, deferring surgery until the postpartum period may be a reasonable option in selected stable cases without complications. Conservative management with hydration and dietary calcium restriction may be a safe alternative in selected pregnant patients with stable, mild-to-moderate hypercalcemia. Genetic evaluation is critical in young patients with PHPT and relevant family history, as hereditary syndromes such as HPT-JT syndrome require long-term multidisciplinary surveillance.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12412361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144972782","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":"An uncommon case of pheochromocytoma with positive biochemical workup and absence of tumor.","authors":"Nicole Chan, Ronald P Kaufman, Nada Farhat, Grace Y Kim","doi":"10.1530/EDM-25-0027","DOIUrl":"10.1530/EDM-25-0027","url":null,"abstract":"<p><strong>Summary: </strong>Pheochromocytomas are rare neuroendocrine tumors derived from adrenal chromaffin cells that result in hyperactivity of the sympathetic nervous system. We present the case of a patient with biochemical evidence of pheochromocytoma, but surgical pathology revealed absence of tumor. This is an 80-year-old female with a past medical history of metastatic follicular lymphoma and hypertension with an incidental 1.4 cm right-sided adrenal nodule noted on a PET-CT scan. Her hypertension was treated with three different antihypertensive agents. Subsequent imaging with non-contrast CT of abdomen and pelvis showed a right adrenal incidentaloma with 16 Hounsfield units. Abdominal MRI with and without contrast revealed atypical signal loss on the out-of-phase imaging. Plasma normetanephrines were approximately 2.4 times higher than the upper limit of normal. Her urinary normetanephrines were higher than the upper limit of normal, suggestive of pheochromocytoma. The patient proceeded with robotically assisted laparoscopic right adrenalectomy and postoperatively required vasopressors. Surgical pathology showed adrenal cortical hyperplasia and medullary infarction associated with fibrosis. However, the noted phases of necrosis with predominant fibrosis match the time interval between clinical diagnosis and surgical management. Postoperative metanephrines normalized 4 weeks after surgery, indicating successful surgical resection of autonomous secretion of metanephrines. This is the only known case of biochemical evidence of pheochromocytoma with no histologic evidence of tumor.</p><p><strong>Learning points: </strong>Biochemical evidence, clinical presentation and imaging studies of pheochromocytoma are crucial for its diagnosis. Due to the vascular nature of pheochromocytoma, there is a potential for the tumor to infarct. Plasma normetanephrines of greater than twice the upper limit of normal have high specificity for pheochromocytoma.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12412360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144972755","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":"Thyroid storm with concurrent autoimmune hepatitis: a case report on diagnostic challenges and the role of therapeutic plasma exchange.","authors":"Mohd Hazriq Awang, Nur 'Aini Eddy Warman, Fatimah Zaherah Mohd Shah, Aimi Fadilah Mohamad, Nur Aisyah Zainordin, Rohana Abdul Ghani, Effat Omar","doi":"10.1530/EDM-25-0042","DOIUrl":"10.1530/EDM-25-0042","url":null,"abstract":"<p><strong>Summary: </strong>Thyroid storm represents a severe expression of thyrotoxicosis and is commonly associated by multiple organ dysfunction and liver abnormality. Thyrotoxicosis with concurrent autoimmune hepatitis is rare but could confound liver dysfunction, hence complicating diagnosis and subsequent management. We present the case of a 37-year-old woman with thyroid storm complicated by multiple organ failure and resistant hyperthyroidism. Despite initial medical therapy, her condition deteriorated with rising bilirubin and worsening right heart failure. Therapeutic plasma exchange (TPE) was initiated, leading to transient clinical and biochemical improvements. However, subsequent neurological decline and hepatic decompensation revealed an underlying autoimmune hepatitis, confirmed via biopsy at later stage. Intensive multimodal management, including further TPE sessions, ultimately stabilized her condition, allowing a safe and successful thyroidectomy. This report underscores the diagnostic challenge posed by overlapping autoimmune pathologies, the need for vigilant monitoring of thyroid and hepatic parameters, and the pivotal role of TPE as a rescue therapy.</p><p><strong>Learning points: </strong>Dual autoimmune pathologies, such as autoimmune hepatitis and Graves' disease, can overlap and complicate diagnosis. Persistent or worsening liver dysfunction despite improvement in other thyroid parameter may signal underlying liver pathology. Importance of monitoring for rebound thyrotoxicosis and liver dysfunction in thyroid storm. Therapeutic plasma exchange (TPE) as a critical rescue therapy in thyroid storm and metabolic or hepatic encephalopathy.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12492312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144972766","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":"Early-onset diabetes with low utilization of lipid as an energy source carrying a rare missense mutation in the CEL gene.","authors":"Ayana Fujii, Hiroko Nakabayashi, Yuko Nagao, Masaru Akiyama, Akihiko Taguchi, Kaito Yorimoto, Risako Hamada, Issei Saeki, Naoki Yamamoto, Taro Takami, Kenji Watanabe, Yoichi Mizukami, Yasuharu Ohta","doi":"10.1530/EDM-24-0151","DOIUrl":"10.1530/EDM-24-0151","url":null,"abstract":"<p><strong>Summary: </strong>Carboxyl ester lipase (CEL) is a major component of pancreatic juice and is responsible for the duodenal hydrolysis of cholesteryl esters. Maturity-onset diabetes of the young (MODY) is a form of diabetes mellitus characterized by early onset and dominant inheritance of beta-cell dysfunction. CEL gene mutations cause the type of MODY denoted as MODY8. Herein, we describe a Japanese patient who harbored a heterozygous A689P mutation in the variable number of tandem repeats (VNTRs)-containing exon 11 of the CEL gene. The patient was not obese and his diabetes was characterized by onset in late adolescence, impaired insulin secretion and metabolic dysfunction-associated steatotic liver disease (MASLD). The C-terminal region of CEL has been postulated to be critical for its secretion and activity. Therefore, the A689P mutation may cause pancreatic exocrine insufficiency and eventually contribute to MASLD, which is associated with reduced lipid catabolism. MODY8 is also considered to be a protein-misfolding disease because a heterozygous single nucleotide deletion causes the production of mutant CEL protein leading to diabetes and exocrine dysfunction. In the present case, MASLD and diabetes characterized by impaired insulin secretion were observed. The CEL A689P missense mutation will expand the known genotype-phenotype correlation in diabetes if it can be demonstrated that the variant is pathogenic.</p><p><strong>Learning points: </strong>The CEL gene encodes the digestive enzyme carboxyl ester lipase, also known as bile salt-stimulated/dependent lipase. CEL is expressed in pancreatic acinar tissue but not in pancreatic β cells. MODY caused by mutations in the CEL gene (MODY8) is characterized by dominantly inherited diabetes mellitus manifesting in early adulthood. A classical feature of MODY8 is pancreatic exocrine dysfunction, often with onset in childhood. Known pathogenic mutations in the CEL gene affect the variable number tandem repeat (VNTR) region in exon 11. Our case suggests that some missense mutations of the CEL VNTR could have a phenotypic implication by being associated with impaired glucose-stimulated insulin secretion and reduced utilization of lipid as an energy source which leads to MASLD.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12492301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144972764","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 rare form of endogenous hypoglycemia uncovered after corticosteroid treatment.","authors":"Adina Simona Dragomir, Georgiana Cristina Taujan, Mihai Vlad Dragan, Luciana Gavrizi-Zafiu, Daniela Doina Chiriac, Dana Larisa Geru, Diana Loreta Paun","doi":"10.1530/EDM-24-0149","DOIUrl":"10.1530/EDM-24-0149","url":null,"abstract":"<p><strong>Summary: </strong>We present the case of a 52-year-old Caucasian woman with insulin autoimmune syndrome (IAS) uncovered after corticosteroid treatment for lumbar pain due to disc herniation. We confirmed hypoglycemic episodes 4-5 h after food ingestion, associated with extremely high levels of insulin and the presence of anti-insulin antibodies, establishing the diagnosis of IAS. The most probable cause of the disease was glucocorticoid medication, considering she had no other autoimmune or hematologic disease associated. As the hypoglycemic episodes were mild, the patient received dietary recommendations (small, frequent, low-carbohydrate meals), and 3 months later, she had no more clinical episodes of hypoglycemia, with improved blood insulin level.</p><p><strong>Learning points: </strong>IAS is a very rare form of hypoglycemia in the Caucasian population, which is why critical thinking and active search are needed. Moreover, drug-induced cases of IAS in the Caucasian population are exceptional, with only one report of glucocorticoid medication as a trigger in the literature. Recognizing IAS is very important in order to avoid unnecessary investigations and choose the right treatment.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12365950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144972683","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":"Decreased β-cell function in a case with Becker muscular dystrophy accompanied by post-transplant diabetes.","authors":"Kazuya Motohashi, Takaaki Murakami, Daisuke Otani, Toshihiro Nakamura, Takao Kato, Osamu Seguchi, Masahito Ogura, Daisuke Yabe, Nobuya Inagaki","doi":"10.1530/EDM-25-0038","DOIUrl":"10.1530/EDM-25-0038","url":null,"abstract":"<p><strong>Summary: </strong>Duchenne and Becker muscular dystrophy (DMD/BMD) are genetic disorders characterized by progressive muscle degeneration due to alterations of the dystrophin protein. The degeneration of skeletal muscles and subsequent replacement with adipose tissue affect motor function as well as insulin sensing and glucose uptake in skeletal muscle, leading to the impairment of systemic glucose tolerance. Although several cases of glucose intolerance accompanied by DMD/BMD have been reported, the development of diabetes is clinically rare in adult cases with DMD/BMD. A 25-year-old man with BMD developed diabetes after receiving heart transplantation due to dilated cardiomyopathy and being on immunosuppressive drugs. Although he did not show evident glucose intolerance before heart transplantation, he demonstrated decreased β-cell function. Despite the shared background of BMD, his older brother, who had not undergone heart transplantation, showed only slightly impaired glucose tolerance and preserved β-cell function. The difference in glucose tolerance in the siblings with BMD clarifies the critical role of β-cell dysfunction in the development of diabetes in individuals with compensatory increasing demand for insulin such as DMD/BMD. In addition, the clinical importance of vigilance for post-transplant diabetes in BMD cases with immunosuppressive agents should be noted.</p><p><strong>Learning points: </strong>Muscle disease such as Duchenne and Becker muscular dystrophy (DMD/BMD) impairs motor function as well as insulin sensing and glucose uptake in skeletal muscle. While the development of diabetes is very rare in adult cases with DMD/BMD, diabetes can develop with concomitant loss of beta-cell function. Vigilance for post-transplant diabetes in people with muscle disease as well as DMD/BMD with immunosuppressive agents is clinically important.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12359123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144849305","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":"Mauriac syndrome: a rare complication in patients with type 1 diabetes mellitus.","authors":"João Oliveira Torres, Diana Cruz Martins, Alexandra Abegão Matias, Nuno Gião, Eduardo Dutra, Rui Malheiro, Milena Mendes, José Silva-Nunes","doi":"10.1530/EDM-25-0035","DOIUrl":"10.1530/EDM-25-0035","url":null,"abstract":"<p><strong>Summary: </strong>Mauriac syndrome is a rare complication in patients with type 1 diabetes. It presents with poor glycemic control and hepatomegaly due to extensive liver glycogen deposition. Whether behavioral or genetic factors play key roles in its pathophysiology remains a subject of debate. We present the case of a 19-year-old woman with poorly controlled type 1 diabetes mellitus and persistently elevated liver enzymes who arrived at the emergency department with diabetic ketoacidosis and hepatomegaly. Blood tests revealed the absence of an associated viral or autoimmune liver disease. Transient liver elastography showed moderate steatosis. Liver biopsy results were consistent with glycogen hepatopathy. Sequencing of genes associated with glycogen storage diseases revealed no pathogenic variants, supporting a non-genetic mechanism for Mauriac syndrome. Insulin regimen and dietary plan were reviewed. Distinction of glycogenic hepatopathy from metabolic dysfunction-associated fatty liver disease is often difficult and frequently only possible through liver biopsy. An accurate diagnosis of Mauriac syndrome carries important prognostic information, as associated hepatomegaly tends to regress through optimization of glycemic control.</p><p><strong>Learning points: </strong>Mauriac syndrome is a rare complication of poorly controlled type 1 diabetes, presenting with elevated liver enzymes and hepatomegaly due to extensive liver glycogen deposition. Liver biopsy plays a key role in distinguishing glycogenic hepatopathy from metabolic-associated steatotic liver disease. Adequate glycemic control often leads to hepatomegaly regression and normalization of liver enzyme levels in Mauriac syndrome.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12326969/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144776401","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":"Delayed diagnosis of STAT1 gain-of-function variant in a patient with multiple endocrine autoimmunity and recurrent fungal infections.","authors":"Sydney Sparanese, Rae Brager, David Fahmy, Jenny Garkaby","doi":"10.1530/EDM-25-0054","DOIUrl":"10.1530/EDM-25-0054","url":null,"abstract":"<p><strong>Summary: </strong>This case report describes a 54-year-old woman with multiple endocrine autoimmune pathologies and recurrent mucocutaneous Candida spp. infections that were inappropriately attributed to her glycemic control. Following an allergic reaction over four decades later, the patient was referred to clinical immunology. The combination of persistent Candida infections, autoimmune endocrinopathies, and a positive family history prompted investigation for an inborn error of immunity (IEI). Genetic testing revealed a novel, missense mutation in STAT1. Functional analysis confirmed enhanced STAT1 protein phosphorylation, confirming a gain-of-function phenotype that explained her infectious and autoimmune manifestations. She was started on the JAK inhibitor, ruxolitinib, with clinical improvement. This case underscores the shared molecular mechanisms between IEIs and autoimmune endocrinopathies and highlights the importance of early recognition of IEI in patients with unusual or treatment-refractory infections alongside autoimmune disease. Endocrinologists and primary care providers may be the first to encounter such patients and should consider referral for immunologic and genetic evaluation. Early diagnosis can reduce long-term morbidity and open the door to targeted therapies that address the root cause of immune dysregulation.</p><p><strong>Learning points: </strong>Persistent mucocutaneous candidiasis in patients with autoimmune endocrinopathies warrants evaluation for underlying IEI: while candidiasis is common in individuals with diabetes, recurrent or treatment-refractory infections - particularly in the presence of additional autoimmune conditions - should prompt consideration of IEI, including STAT1 gain-of-function mutations. Autoimmunity and immunodeficiency represent overlapping spectra of immune dysregulation: genetic syndromes such as STAT1 GOF may manifest with both autoimmune endocrinopathies and increased susceptibility to fungal infections, underscoring the importance of a unifying diagnostic approach to seemingly disparate clinical features. Early referral to clinical immunology and genetic testing can enable timely diagnosis and targeted therapy: early recognition of IEI allows for disease-modifying treatment, such as JAK inhibition, which may alleviate infectious susceptibility and autoimmune manifestations, ultimately reducing morbidity and improving the quality of life. A thorough family history can provide critical diagnostic clues in cases of immune dysregulation: subtle patterns of autoimmunity or recurrent infections in family members - particularly in non-consanguineous pedigrees - may indicate heritable immunologic disorders and should inform the clinical threshold for pursuing genetic evaluation.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291487/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144699754","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":"'Un-thirsty' hypernatremia.","authors":"Markus Koster, Katrin Ledergerber, Michael Brändle","doi":"10.1530/EDM-25-0008","DOIUrl":"10.1530/EDM-25-0008","url":null,"abstract":"<p><strong>Summary: </strong>A 38-year-old man was admitted because of transient somnolence. Five weeks previously, he had suffered a subarachnoid hemorrhage from a ruptured aneurysm of the anterior communicating artery (ACOM), which was treated by craniotomy and clipping. He had recovered well, although loss of short-term memory and a forehead paresis on the side of craniotomy persisted. Clinical examination on admission showed no new neurological deficits. Cerebral computed tomography with angiography revealed no bleeding or infarction and correctly positioned clips. Laboratory examination showed severe hypernatremia (179 mmol/L). The patient was admitted to the intensive care unit (ICU) and treated with oral fluids and 5% glucose intravenously. Remarkably, he denied being thirsty and had to be encouraged to drink. Urine osmolality quickly fell to 294 mOsm/kg, polyuria of up to 400 mL/h was measured, and serum sodium remained elevated. Therefore, diabetes insipidus (DI) was obvious. After application of desmopressin acetate, urine output dropped to around 50 mL/h, confirming central DI or vasopressin deficiency (VD). Desmopressin acetate dose and volume management were continuously adjusted to blood sodium to restore euvolemia. Drinking volume needed to be supervised because of persistent lack of thirst and amnesia of being told to drink. Adipsic VD (aAVP-D) is a rare syndrome characterized by the combination of VD and loss of thirst in response to hypernatremia. It usually occurs within days after cell damage of osmoreceptors, for example after disruption of blood supply as in clipping of an ACOM aneurysm. Management includes titrated desmopressin acetate replacement, fixed water intake, weight monitoring, patient education and sodium monitoring.</p><p><strong>Learning points: </strong>Adipsic vasopressin deficiency (aAVP-D) is a rare form of vasopressin deficiency (VD) characterized by additional loss of thirst in response to hypernatremia due to impaired function of periventricular osmoreceptors. Bleeding from ACOM aneurysm and, possibly, therefore the performed frontal craniectomy with aneurysm clipping are the most frequent causes of aAVP-D. Other causes include craniopharyngioma, head trauma, germinoma or neurosarcoidosis. Management of aAVP-D includes replacement of titrated desmopressin acetate, fixed water intake, daily weight tracking, good patient education and regular sodium monitoring.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2025 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291485/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144699810","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}