Case Reports in Endocrinology最新文献

Primary Aldosteronism Presenting as Dropped Head Syndrome With Hypokalemic Rhabdomyolysis: A Case Report. 原发性醛固酮增多症表现为低钾性横纹肌溶解伴头下垂综合征1例报告。

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Case Reports in Endocrinology Pub Date : 2026-04-29 eCollection Date: 2026-01-01 DOI: 10.1155/crie/6424516

Ya-Chen Kao, Yu-Cheng Liang, Ye-Fong Du, Horng-Yih Ou

{"title":"Primary Aldosteronism Presenting as Dropped Head Syndrome With Hypokalemic Rhabdomyolysis: A Case Report.","authors":"Ya-Chen Kao, Yu-Cheng Liang, Ye-Fong Du, Horng-Yih Ou","doi":"10.1155/crie/6424516","DOIUrl":"https://doi.org/10.1155/crie/6424516","url":null,"abstract":"Background: Primary aldosteronism (PA) is a common cause of secondary hypertension and hypokalemia, but it rarely presents with neuromuscular symptoms. Although only a few cases of hypokalemia-induced rhabdomyolysis have been reported, dropped head syndrome (DHS) due to cervical axial muscle weakness has not previously been described in the context of PA.Case presentation: A 65-year-old woman with a history of hypertension presented with progressive posterior neck weakness, followed by proximal limb soreness and weakness. Cervical spine disease was initially suspected, but CT imaging revealed only degenerative changes without cord compression. Laboratory tests showed severe hypokalemia (1.5 mmol/L), metabolic alkalosis, and markedly elevated creatine kinase and myoglobin levels, consistent with rhabdomyolysis. Her symptoms resolved after potassium supplementation. Endocrine workup revealed an elevated aldosterone-to-renin ratio (ARR) and a positive captopril suppression test. CT and NP-59 SPECT/CT identified a left adrenal functioning adenoma. Laparoscopic adrenalectomy confirmed an aldosterone-producing adrenal cortical adenoma. Postoperatively, the patient achieved complete biochemical remission with normalized potassium levels, improved blood pressure, and no recurrence of muscle weakness or neck symptoms.Conclusion: This case highlights a rare presentation of PA as hypokalemia-induced rhabdomyolysis and DHS mimicking cervical spine pathology. In patients with unexplained focal muscle weakness and persistent hypokalemia, particularly in the setting of hypertension, PA should be considered. Clinicians should maintain a high index of suspicion and pursue comprehensive diagnostic evaluations. Early diagnosis and definitive treatment can prevent long-term complications and enable full metabolic recovery.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2026 ","pages":"6424516"},"PeriodicalIF":0.9,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13126241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147811322","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}

引用次数: 0

Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency Presented With Leydig Cell Tumor and Testicular Adrenal Rest Tumors: A Case Report. 11β-羟化酶缺乏所致先天性肾上腺增生伴间质细胞瘤和睾丸肾上腺休息瘤1例。

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Case Reports in Endocrinology Pub Date : 2026-04-27 eCollection Date: 2026-01-01 DOI: 10.1155/crie/3675251

Shervin Mossavarali, Faezeh Sehatpour, Shahrzad Mohseni, Mahnaz Pejman Sani

{"title":"Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency Presented With Leydig Cell Tumor and Testicular Adrenal Rest Tumors: A Case Report.","authors":"Shervin Mossavarali, Faezeh Sehatpour, Shahrzad Mohseni, Mahnaz Pejman Sani","doi":"10.1155/crie/3675251","DOIUrl":"https://doi.org/10.1155/crie/3675251","url":null,"abstract":"Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency is an uncommon disorder characterized by impaired cortisol synthesis, hyperandrogenism, and mineralocorticoid excess. The coexistence of Leydig cell tumors (LCTs) and testicular adrenal rest tumors (TARTs) is rarely reported, highlighting the diagnostic and therapeutic challenges in such cases. A 35-year-old man with a history of hypertension and infertility presented with left testicular masses. His medical history was significant for a prior right orchiectomy, with pathology confirming LCT. Subsequent evaluations revealed azoospermia, elevated adrenal androgen levels, adrenocorticotropic hormone (ACTH) and 17-OH progesterone levels indicative of CAH due to 11β-hydroxylase deficiency. Imaging studies identified left testicular masses and bilateral adrenal myelolipomas. The patient was managed with oral dexamethasone and eplerenone, resulting in normalization of blood pressure and electrolytes. This case highlights the complexity of CAH presentations with overlapping testicular and adrenal pathologies. Patients with such conditions should be closely monitored and regularly checked for common complications to ensure timely intervention and optimal management.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2026 ","pages":"3675251"},"PeriodicalIF":0.9,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13115910/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763416","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}

引用次数: 0

Acute Kidney Injury and Nephrotic-Range Proteinuria as Initial Presentation of Pheochromocytoma: A Case Report. 急性肾损伤和肾范围蛋白尿作为嗜铬细胞瘤的初始表现：1例报告。

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Case Reports in Endocrinology Pub Date : 2026-04-26 eCollection Date: 2026-01-01 DOI: 10.1155/crie/8510972

Anum Rizwan, Sajid Islam Bhatti, Huda Raja, Sidra German, Tajammul Waqar, Abdullah Nadeem, Nahid Raufi

{"title":"Acute Kidney Injury and Nephrotic-Range Proteinuria as Initial Presentation of Pheochromocytoma: A Case Report.","authors":"Anum Rizwan, Sajid Islam Bhatti, Huda Raja, Sidra German, Tajammul Waqar, Abdullah Nadeem, Nahid Raufi","doi":"10.1155/crie/8510972","DOIUrl":"https://doi.org/10.1155/crie/8510972","url":null,"abstract":"Introduction: Pheochromocytomas are rare catecholamine-producing neuroendocrine tumors that present with the classical triad of paroxysmal hypertension, palpitations, and sweating; however, this presentation is seen in less than 1/4 of pheochromocytoma patients. Hypertension is usually the predominant manifestation. Atypical manifestations, including renal involvement, are infrequent and may delay diagnosis.Case presentation: We report the case of a 37-year-old male with no prior comorbidities who presented with progressive abdominal pain, shortness of breath, and oliguria. Laboratory evaluation demonstrated acute kidney injury with nephrotic-range proteinuria, initially raising suspicion of a primary glomerular disorder. Chest imaging revealed pulmonary congestion, while abdominal imaging identified a right adrenal mass. Plasma-free metanephrine and normetanephrine levels were markedly elevated, confirming pheochromocytoma. The patient underwent preoperative optimization with alpha-adrenergic blockade and supportive measures, including temporary hemodialysis. A right adrenalectomy was subsequently performed, leading to complete resolution of renal dysfunction and normalization of blood pressure.Conclusion: This case emphasizes the diagnostic challenge of pheochromocytoma when presenting with renal complications. Clinicians should consider adrenal tumors in the differential diagnosis of patients with unexplained acute kidney injury, as timely recognition and surgical intervention can result in full recovery.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2026 ","pages":"8510972"},"PeriodicalIF":0.9,"publicationDate":"2026-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13110390/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763370","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}

引用次数: 0

Denys-Drash Syndrome by WT1 Gene: Clinical Variability and Management Challenges in Two Saudi Infants. 由WT1基因引起的Denys-Drash综合征：两个沙特婴儿的临床变异性和管理挑战。

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Case Reports in Endocrinology Pub Date : 2026-04-24 eCollection Date: 2026-01-01 DOI: 10.1155/crie/8875066

Waleed Al-Amoudi, Raghad Alhuthil, Abdulrahman Alnwiji, Megren S Alqarni, Sarah Murad, Afaf Alsagheir

{"title":"Denys-Drash Syndrome by WT1 Gene: Clinical Variability and Management Challenges in Two Saudi Infants.","authors":"Waleed Al-Amoudi, Raghad Alhuthil, Abdulrahman Alnwiji, Megren S Alqarni, Sarah Murad, Afaf Alsagheir","doi":"10.1155/crie/8875066","DOIUrl":"https://doi.org/10.1155/crie/8875066","url":null,"abstract":"Background: Denys-Drash syndrome (DDS) is a rare genetic disorder characterized by mutations in the Wilms tumor suppressor gene (WT1), leading to a triad of conditions including nephrotic syndrome progressing to end-stage renal disease (ESRD), Wilms tumor, and ambiguous genitalia. We present two pediatric cases illustrating the complexity and variability of DDS.Case presentation: The first case is a 7-month-old male presenting with ambiguous genitalia, nephropathy, and intussusception. Genetic analysis identified a likely pathogenic heterozygous WT1 variant: c.1384C >T (p.Gln462Ter). Despite surgical interventions, treatment was delayed due to COVID-19 restrictions, and the patient unfortunately passed away at 16 months during the lockdown period. The second case involves an 8-month-old female with normal external genitalia, a horseshoe kidney, bilateral renal masses, and recurrent hypotensive episodes. Genetic testing revealed a pathogenic heterozygous WT1 variant: c.453G >A (p.Trp151Ter). She was diagnosed with DDS-associated Wilms tumor and, despite aggressive management, passed away at 21 months.Conclusion: These cases underscore the importance of early diagnosis, multidisciplinary management, and personalized therapeutic approaches in DDS patients. Bilateral nephrectomy, renal transplantation, and monitoring for Wilms tumor are pivotal in improving prognosis, though variability in clinical presentations often complicates decision-making.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2026 ","pages":"8875066"},"PeriodicalIF":0.9,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108425/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763440","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}

引用次数: 0

Partial Horner's Syndrome Following Thyroidectomy Without Lateral Neck Dissection: A Rare Case Report and Literature Review. 甲状腺切除术后无侧颈清扫的部分霍纳综合征：罕见病例报告及文献复习。

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Case Reports in Endocrinology Pub Date : 2026-04-23 eCollection Date: 2026-01-01 DOI: 10.1155/crie/1253094

Eve Hopping, Femi E Ayeni, Senarath Edirimanne

{"title":"Partial Horner's Syndrome Following Thyroidectomy Without Lateral Neck Dissection: A Rare Case Report and Literature Review.","authors":"Eve Hopping, Femi E Ayeni, Senarath Edirimanne","doi":"10.1155/crie/1253094","DOIUrl":"https://doi.org/10.1155/crie/1253094","url":null,"abstract":"Horner's syndrome is a rare complication of thyroid surgery and is most commonly reported as a complication associated with lateral neck dissection. We present the case of a 46-year-old woman who developed a partial Horner's syndrome following hemithyroidectomy and central neck dissection, without lateral neck dissection. The patient underwent right hemithyroidectomy and central neck dissection for a TIRADS-5 nodule and developed right sided facial anhidrosis and absence of right-sided facial erythema on exertion 6 weeks post-operatively. No ocular involvement was detected. Neurologist review confirmed partial Horner's syndrome, which eventually resolved. The literature regarding development of Horner's syndrome as a complication of thyroid surgery without lateral neck dissection was reviewed via PubMed. All English language publications of adult patients developing features of Horner's syndrome after open thyroid surgery (hemithyroidectomy or thyroidectomy, +/- central neck dissection) were included. Twenty one cases of Horner's syndrome following thyroid surgery without lateral neck dissection were identified. Interestingly, only four of these cases featured anhidrosis, and no case reported asymmetrical facial erythema. Four possible mechanisms of cervical sympathetic chain dysfunction resulting in Horner's syndrome post-thyroidectomy have been proposed: neuropraxia from retraction; mass effect from post-operative haematoma; ischaemia-induced nerve damage; damage to communicating fibres during repeated inspection of the recurrent laryngeal nerve. To our knowledge, this is the only reported case of a post-thyroidectomy partial Horner's syndrome with associated asymmetrical flushing.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2026 ","pages":"1253094"},"PeriodicalIF":0.9,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13106947/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763448","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}

引用次数: 0

A Rare Primary Adrenal Malignancy Manifesting as a Hemorrhagic Mass: Case Report and Literature Review. 一例罕见的原发性肾上腺恶性肿瘤表现为出血性肿块：病例报告及文献复习。

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Case Reports in Endocrinology Pub Date : 2026-04-08 eCollection Date: 2026-01-01 DOI: 10.1155/crie/1260707

Salem Al Ghaithi, Ibrahim Alali, Ali Al Reesi, Ali Almadhani

{"title":"A Rare Primary Adrenal Malignancy Manifesting as a Hemorrhagic Mass: Case Report and Literature Review.","authors":"Salem Al Ghaithi, Ibrahim Alali, Ali Al Reesi, Ali Almadhani","doi":"10.1155/crie/1260707","DOIUrl":"https://doi.org/10.1155/crie/1260707","url":null,"abstract":"Primary adrenal extranodal natural killer/T-cell lymphoma (ENKTL) is an exceptionally rare, aggressive malignancy with fewer than 10 cases worldwide. We describe a 55-year-old man with diabetes mellitus and benign prostatic hyperplasia who presented with progressive left-sided abdominal pain and a 17-kg unintentional weight loss over 4 months. Imaging showed a 4.9-cm left adrenal mass with hemorrhagic features, initially presumed to be spontaneous adrenal hemorrhage. Endocrine evaluation excluded functional adrenal tumors, and surgical management required conversion from laparoscopic adrenalectomy to open resection due to superior mesenteric vein (SMV) involvement. Histopathological and immunophenotypic confirmed non-nasal ENKTL (CD3+, CD56+, granzyme B+, perforin+, and Epstein-Barr virus-encoded RNA [EBER]+). Postoperative 18F-FDG PET/computed tomography (CT) demonstrated residual disease; steroid, methotrexate, ifosfamide, L-asparaginase, and etoposide (SMILE) chemotherapy achieved a marked complete metabolic response after six cycles-one of the most significant documented responses in primary adrenal NK/T-cell lymphoma. This case highlights diagnostic challenges of primary adrenal lymphoma (PAL), the need for histopathological confirmation in atypical masses, and suspicion for hematological malignancies with systemic symptoms and adrenal lesions.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2026 ","pages":"1260707"},"PeriodicalIF":0.9,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13058563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147644004","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}

引用次数: 0

Intraindividual Comparison of the Anabolic Steroid Hormone Profile Between Hormonal Contraceptive Use and the Phases of a Natural Menstrual Cycle in a Recreational Athlete: A Single-Case Observational Study. 娱乐性运动员使用激素避孕药和自然月经周期之间合成代谢类固醇激素的个体内比较：一项单例观察研究。

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Case Reports in Endocrinology Pub Date : 2026-04-08 eCollection Date: 2026-01-01 DOI: 10.1155/crie/9648747

Jana Nolte, Sven C Voss, Annekathrin Martina Keiler, Kirsten Legerlotz, Petra Platen

{"title":"Intraindividual Comparison of the Anabolic Steroid Hormone Profile Between Hormonal Contraceptive Use and the Phases of a Natural Menstrual Cycle in a Recreational Athlete: A Single-Case Observational Study.","authors":"Jana Nolte, Sven C Voss, Annekathrin Martina Keiler, Kirsten Legerlotz, Petra Platen","doi":"10.1155/crie/9648747","DOIUrl":"https://doi.org/10.1155/crie/9648747","url":null,"abstract":"Endogenous androgens, including testosterone and the androgen precursor androstenedione, are known to influence muscular adaptation. However, variations in these hormones throughout the natural menstrual cycle (MC) and during oral hormonal contraception (HC) remain underexplored in the athletic population with cycle-based training approaches. This study investigates variations in steroid hormone profiles under HC and during a natural MC in one recreational athlete. An observational study was conducted on a 25-year-old female recreational athlete (167 cm, 60 kg, 6 h training/exercise activity per week). Testosterone and androstenedione concentrations were measured in her urine and plasma every two to 3 days during 3 weeks of HC use (hormonal vaginal ring) and the 1-week HC break and 11 months later during one natural MC. Hormone analysis was conducted using gas chromatography coupled with mass spectrometry for urine steroids and liquid chromatography coupled with mass spectrometry for plasma steroids. Throughout the MC, urinary total androgen and plasma androstenedione levels peaked around ovulation, followed by a decline in the luteal phase, suggesting phase-dependent variation in androgen precursor availability. Meanwhile, plasma testosterone remained unchanged throughout the cycle. HC use resulted in lower androgen concentrations with no notable fluctuations in plasma or urine. The suppression of naturally secreted androgens and their respective fluctuations throughout MC induced by HC may have implications for training adaptations and athletic performance. Furthermore, it is essential for female athletes and their coaches to consider the use of HC in order to optimize training strategies.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2026 ","pages":"9648747"},"PeriodicalIF":0.9,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13059673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147643982","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}

引用次数: 0

Thyroid Pneumatosis Following Fishbone Ingestion: A Rare Case Report. 鱼骨误食致甲状腺肺病1例报告。

IF 0.9

Case Reports in Endocrinology Pub Date : 2026-03-03 eCollection Date: 2026-01-01 DOI: 10.1155/crie/4133056

Bruna Pimentel, Luís Baptista, Inês Medeiros, Beatriz Lança, Ana Coutinho Santos, Clara Cunha, João Sequeira Duarte

{"title":"Thyroid Pneumatosis Following Fishbone Ingestion: A Rare Case Report.","authors":"Bruna Pimentel, Luís Baptista, Inês Medeiros, Beatriz Lança, Ana Coutinho Santos, Clara Cunha, João Sequeira Duarte","doi":"10.1155/crie/4133056","DOIUrl":"https://doi.org/10.1155/crie/4133056","url":null,"abstract":"Background: Thyroid pneumatosis is an extremely rare condition, previously reported only once as a complication of an ultrasound-guided thyroid fine needle aspiration (FNA).Case report: A 70-year-old male sought emergency care after experiencing a foreign body sensation in his throat. He was diagnosed with a retropharyngeal abscess caused by upper digestive tract perforation from fishbone ingestion, which was surgically extracted. Postoperative day 3, a neck computed tomography (CT) revealed gas bubbles within the thyroid parenchyma, indicative of thyroid pneumatosis, likely leading to destructive thyroiditis (TSH 0.109 µUI/mL, free T4 of 27.1 pmol/L, and free T3 of 4.08 pmol/L). A multidisciplinary team opted for a conservative approach, and the patient showed a favorable recovery. Thyroid function normalized within 2 months (TSH 2.44 mUI/mL, free T4 13.6 pmol/L, and free T3 4.58 pmol/L).Conclusion: Thyroid pneumatosis should be recognized as a potential rare complication following esophageal perforation. This is the first documented case linking destructive thyroiditis to thyroid pneumatosis.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2026 ","pages":"4133056"},"PeriodicalIF":0.9,"publicationDate":"2026-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12956431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147354015","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}

引用次数: 0

GPIHBP1 Autoantibody-Related Hypertriglyceridemia in a 12-Year-Old Girl With Systemic Lupus Erythematosus. 12岁系统性红斑狼疮女孩GPIHBP1自身抗体相关的高甘油三酯血症

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Case Reports in Endocrinology Pub Date : 2026-03-02 eCollection Date: 2026-01-01 DOI: 10.1155/crie/6673352

Sin-Ting Tiffany Lai, Suk-Yan Suki Chan, Stephanie C Y Yu, Jenny Yeuk Ki Cheng, Kam-Chi Teresa Tsui, Chi-Hang Assunta Ho, Ho-Chung Yau

{"title":"GPIHBP1 Autoantibody-Related Hypertriglyceridemia in a 12-Year-Old Girl With Systemic Lupus Erythematosus.","authors":"Sin-Ting Tiffany Lai, Suk-Yan Suki Chan, Stephanie C Y Yu, Jenny Yeuk Ki Cheng, Kam-Chi Teresa Tsui, Chi-Hang Assunta Ho, Ho-Chung Yau","doi":"10.1155/crie/6673352","DOIUrl":"https://doi.org/10.1155/crie/6673352","url":null,"abstract":"Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) is critical for transporting lipoprotein lipase (LPL) to the capillary lumen, where LPL breaks down triglycerides in triglyceride-rich lipoproteins. We herein report a 12-year-old Chinese girl who presented with severe hypertriglyceridemia and a recent diagnosis of systemic lupus erythematosus (SLE). She was first noted to have severe hypertriglyceridemia at 8.5 years old, complicated by three episodes of acute pancreatitis within 2 years. Between these episodes, her plasma triglycerides remained elevated, but at lower levels. Next-generation sequencing for primary hypertriglyceridemia yielded no significant findings. Investigations for secondary causes, to include fasting glucose, HbA1c, and thyroid function testing, were unrevealing. Given the fluctuating triglyceride levels and negative genetic testing for primary hypertriglyceridemia in the background of SLE, autoimmune hypertriglyceridemia was suspected. The diagnosis of GPIHBP1 autoantibody syndrome was confirmed by an elevated GPIHBP1 autoantibody titer and a low LPL mass in her serum. Her SLE was well controlled with immunosuppressants and belimumab. Fenofibrate and omega-3 fatty acids, which were initially prescribed for her hypertriglyceridemia, were later discontinued. The GPIHBP1 autoantibody and LPL mass normalized 2 years after diagnosis. This case illustrates hypertriglyceridemia caused by a rare disease entity associated with autoantibodies against the GPIHBP1 protein. This entity is worth considering after excluding genetic and common secondary causes of hypertriglyceridemia, particularly in a patient with a history of autoimmune disease.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2026 ","pages":"6673352"},"PeriodicalIF":0.9,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12953190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147354053","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}

引用次数: 0

Correction to "Rapid and Significant Reduction in Size of Pituitary Adenoma in Children Treated with Fractionated Stereotactic Radiation Therapy: A Case Report". 更正“分次立体定向放射治疗儿童垂体腺瘤体积迅速显著减小：1例报告”。

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Case Reports in Endocrinology Pub Date : 2026-02-25 eCollection Date: 2026-01-01 DOI: 10.1155/crie/9759156

引用次数: 0