Endocrinology, Diabetes and Metabolism Case Reports最新文献

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Successful delivery in the setting of SDHB metastatic paraganglioma. 在 SDHB 转移性副神经节瘤的情况下成功分娩。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2024-09-27 Print Date: 2024-07-01 DOI: 10.1530/EDM-24-0016
M Majumder, M L Gild, B G Robinson
{"title":"Successful delivery in the setting of SDHB metastatic paraganglioma.","authors":"M Majumder, M L Gild, B G Robinson","doi":"10.1530/EDM-24-0016","DOIUrl":"10.1530/EDM-24-0016","url":null,"abstract":"<p><strong>Summary: </strong>Pregnancy in the setting of metastatic paraganglioma is challenging, particularly in the context of tyrosine kinase use. We describe a 26-year-old female with a background of metastatic paraganglioma harboring a pathogenic SDHB variant, requiring sunitinib, which was withheld to facilitate the safe conception and delivery of a healthy baby. She required no alpha- or beta-blockade during her pregnancy and exhibited no signs of tumor progression or symptoms throughout this period. Historically, higher rates of fetal and maternal morbidity and mortality have been experienced in the setting of pregnancy. Although limited data exist on the management of metastatic paraganglioma in pregnant patients, this case suggests that careful treatment modifications, such as temporary tyrosine kinase therapy cessation and vigilant monitoring, can result in successful pregnancies without compromising maternal or fetal well-being.</p><p><strong>Learning points: </strong>Paraganglioma in pregnancy has been associated with poor fetal and maternal morbidity and mortality. Many of the treatment modalities for metastatic paraganglioma, including tyrosine kinase inhibitors, can affect fertility or cannot be utilized in pregnancy, necessitating the temporary suspension of these treatments. This case exemplifies that careful clinical and biochemical monitoring during pregnancy is required to avoid maternal and fetal harm while balancing the risk of disease progression off treatment.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355853","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
Acquired isolated ACTH deficiency co-occurrence with breast cancer irrespective of paraneoplastic syndrome: coincidence or inevitability. 获得性孤立促肾上腺皮质激素缺乏症与乳腺癌并发,与副肿瘤综合征无关:巧合还是必然。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2024-09-19 Print Date: 2024-07-01 DOI: 10.1530/EDM-23-0129
Shin Urai, Hironori Bando, Mei Nakatsuji, Masaaki Yamamoto, Hidenori Fukuoka, Genzo Iguchi, Wataru Ogawa
{"title":"Acquired isolated ACTH deficiency co-occurrence with breast cancer irrespective of paraneoplastic syndrome: coincidence or inevitability.","authors":"Shin Urai, Hironori Bando, Mei Nakatsuji, Masaaki Yamamoto, Hidenori Fukuoka, Genzo Iguchi, Wataru Ogawa","doi":"10.1530/EDM-23-0129","DOIUrl":"10.1530/EDM-23-0129","url":null,"abstract":"<p><strong>Summary: </strong>A 52-year-old female patient with breast cancer presented with a history of fatigue and malaise 1 year prior. She was diagnosed with isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) on endocrinological examination. Her pituitary gland showed normal morphology. Paraneoplastic IAD associated with breast cancer was suspected; however, immunofluorescence staining revealed no ectopic ACTH or proopiomelanocortin expression in the tumor tissue. Subsequently, the patient was diagnosed with idiopathic acquired IAD concurrent with breast cancer, ruling out paraneoplastic syndrome. Although malignancy should be considered a potential cause of IAD, not all patients with concurrent IAD and malignancy necessarily develop paraneoplastic syndrome.</p><p><strong>Learning points: </strong>Several adrenal insufficiency symptoms are similar to the nonspecific symptoms associated with malignancies, and therefore, the diagnosis of IAD remains challenging, especially in patients with cancer. When we encounter a case of IAD accompanied by a malignant tumor, it is important to suspect that paraneoplastic IAD, a novel clinical condition as secondary hypophysitis, may be the etiologic agent. Although malignant tumours should be considered a potential cause of IAD, not all patients with concurrent IAD and malignancy necessarily develop paraneoplastic autoimmune hypophysitis.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297438","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
Rectal thionamide administration in the setting of thyroid storm: a case report and review of the literature. 甲状腺风暴时直肠服用硫酰胺:病例报告和文献综述。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2024-09-04 Print Date: 2024-07-01 DOI: 10.1530/EDM-24-0067
Maxim John Levy Barnett, Carlo Casipit, Sri Ram Teja Sathi, Ana Del Carmen Rivadeneira Rodriguez
{"title":"Rectal thionamide administration in the setting of thyroid storm: a case report and review of the literature.","authors":"Maxim John Levy Barnett, Carlo Casipit, Sri Ram Teja Sathi, Ana Del Carmen Rivadeneira Rodriguez","doi":"10.1530/EDM-24-0067","DOIUrl":"10.1530/EDM-24-0067","url":null,"abstract":"<p><strong>Summary: </strong>Thyroid storm is a clinical diagnosis characterized by life-threatening multisystemic organ involvement in the setting of uncontrolled hyperthyroidism. Current estimates suggest a mortality rate of up to 30%. Treatment often consists of the administration of thionamide medications, iodine solution(s), corticosteroids, and beta-blockers; in extreme circumstances, both plasmapheresis and thyroidectomy are subsequent therapeutic options. Thionamides are typically administered orally, with the intent of preventing further thyroid hormone synthesis; however, in the literature, there are instances whereby oral access cannot be obtained, and alternative routes of administration are required. We present a case of a patient who presented with a thyroid storm due to lack of adherence to methimazole. During admission, he was found to have significant abdominal pain and ultimately a duodenal perforation requiring strict nil-per-os (NPO) status, due to which he was unable to receive oral thionamides. Due to the lack of availability of intravenous formulations of thionamides in the United States, this patient was treated with an enema compound of propylthiouracil for a total of five per rectum (PR) doses. He would later develop hepatocellular injury, requiring discontinuation and eventual transition to oral methimazole. The literature pertaining to alternative-route thionamide administration is scant, and therefore this case report and literature review is written to provide an up-to-date review and further educate all levels of clinicians about this infrequent (but emergent) situation.</p><p><strong>Learning points: </strong>Thyroid storm is a clinical diagnosis for which urgent recognition is required to prevent untoward mortality. Treatment for thyroid storm requires prompt administration of thionamides, iodine, corticosteroids, and beta-blockers. In extreme circumstances, treatment considerations include plasmapheresis and thyroidectomy. Infrequently, patients with a thyroid storm may not be able to tolerate oral medications, for which alternative routes of access are required. Currently, available alternatives include intravenous methimazole (in Europe and Japan), as well as both enema and suppository preparations of propylthiouracil and methimazole.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11378121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142126796","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
MEN2 phenotype in a family with germline heterozygous rare RET K666N variant. 一个家族的 MEN2 表型与种系杂合子罕见 RET K666N 变异有关。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2024-09-04 Print Date: 2024-07-01 DOI: 10.1530/EDM-24-0009
A La Greca, D Dawes, M Albuja-Cruz, C Raeburn, L Axell, L Ku, C Klein, C Marshall, L Fishbein
{"title":"MEN2 phenotype in a family with germline heterozygous rare RET K666N variant.","authors":"A La Greca, D Dawes, M Albuja-Cruz, C Raeburn, L Axell, L Ku, C Klein, C Marshall, L Fishbein","doi":"10.1530/EDM-24-0009","DOIUrl":"10.1530/EDM-24-0009","url":null,"abstract":"<p><strong>Summary: </strong>Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by germline-activating pathogenic variants in the RET proto-oncogene. MEN2A is the most common subtype, with a risk for medullary thyroid cancer (MTC), pheochromocytoma (PHEO), and primary hyperparathyroidism (PHPT), whereas MEN2B is less common and associated with MTC and PHEO along with mucosal neuromas. Little is known about the specific RET germline heterozygous variant K666N. This variant has been described in very few families, and in most cases, patients were diagnosed with a very indolent MTC as the only feature. There is one case of MTC and bilateral PHEO. The RET K666N variant is not stratified yet by the American Thyroid Association, and data are limited on pathogenicity; therefore, appropriate screening and treatment of asymptomatic RET K666N carriers are unclear. Here, we report a family with a heterozygous germline RET K666N variant. The proband was identified when she experienced cardiogenic shock and multi-organ failure after an elective hysterectomy and subsequently was found to have PHEO, with genetic testing revealing the RET K666N germline variant. Patient consent was obtained through IRB protocol COMIRB #15-0516.</p><p><strong>Learning points: </strong>The specific RET germline heterozygous variant K666N is rare and described in very few families, and in most cases, patients were diagnosed with a very indolent MTC as the only feature. Our proband is much younger and has PHEO, MTC, and PHPT. The RET K666N germline variant appears to be a low penetrance variant for MEN2.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11378119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134115","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
Sidonia and Nicu de Barcsy: a famous mother with post-partum hirsutism after giving birth to a famous son with idiopathic short stature. Sidonia 和 Nicu de Barcsy:一位著名的母亲在生下患有特发性身材矮小的儿子后,患上了产后多毛症。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2024-08-27 Print Date: 2024-07-01 DOI: 10.1530/EDM-23-0095
Wouter W de Herder
{"title":"Sidonia and Nicu de Barcsy: a famous mother with post-partum hirsutism after giving birth to a famous son with idiopathic short stature.","authors":"Wouter W de Herder","doi":"10.1530/EDM-23-0095","DOIUrl":"10.1530/EDM-23-0095","url":null,"abstract":"<p><strong>Summary: </strong>At the end of the 19th century, an 18-year-old lady gave birth to a well-proportioned, though very small, son. After delivery, the mother developed a full-grown beard, whereas the son always remained of small stature. The mother developed diabetes mellitus and died, aged 59, from a complicated severe cold. The son died at the age of 91 because of chronic kidney disease. The differential diagnosis in the son is isolated growth hormone deficiency. The mother might have suffered luteoma of pregnancy, polycystic ovary syndrome (PCOS), or Sertoli-Leydig cell tumor(s). The two cases are apparently coincidental/not related in pathophysiology.</p><p><strong>Learning points: </strong>Hirsutism occurring directly postpartum can have several causes. Patients with isolated growth hormone deficiency can live a long life without the substitution of growth hormone. Coincidence does not necessarily imply correlation. In the past, patients with endocrine disorders like severe hirsutism or small stature were employed at circuses and fairs to entertain the audience as curiosities.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11378127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074079","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 tale of two sisters - delayed diagnosis of genetic hyperinsulinaemic hypoglycaemia. 两姐妹的故事--遗传性高胰岛素血症低血糖的延迟诊断。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2024-08-16 Print Date: 2024-07-01 DOI: 10.1530/EDM-24-0007
F Stringer, C Preston, R MacIsaac, F Inchley, L Rivera-Woll, S Farrell, N Sachithanandan
{"title":"A tale of two sisters - delayed diagnosis of genetic hyperinsulinaemic hypoglycaemia.","authors":"F Stringer, C Preston, R MacIsaac, F Inchley, L Rivera-Woll, S Farrell, N Sachithanandan","doi":"10.1530/EDM-24-0007","DOIUrl":"10.1530/EDM-24-0007","url":null,"abstract":"<p><strong>Summary: </strong>Congenital hyperinsulinism is the leading cause of persistent hypoglycaemia in infants and children; however, it is uncommon to be diagnosed in adulthood. We describe the cases of two sisters who presented with hyperinsulinaemic hypoglycaemia aged 47 and 57 years old, who were subsequently diagnosed with compound heterozygous likely pathogenic variants in the ABCC8 gene, a known cause of monogenic congenital hyperinsulinism. We discuss the typical presenting features, investigation findings, and treatment strategies for patients with this condition.</p><p><strong>Learning points: </strong>Congenital hyperinsulinism is a rare cause of hyperinsulinaemic hypoglycaemia diagnosed in adulthood. Clinical presentation is similar to an insulinoma, and imaging modalities may assist in differentiation. There are minimal medical therapies currently available for patients non-responsive to diazoxide (such as those with ABCC8 and KCNJ11 variants). Continuous glucose monitoring can be helpful in giving patients autonomy in managing their disease, as well as relieving anxiety and fear associated with hypoglycaemia.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11378141/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141996618","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
Transient synovitis associated with leuprolide depot (Lupron). 与利血平去甲肾上腺素(Lupron)相关的一过性滑膜炎。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2024-08-16 Print Date: 2024-07-01 DOI: 10.1530/EDM-24-0031
Erica A Steen, Susan A Phillips
{"title":"Transient synovitis associated with leuprolide depot (Lupron).","authors":"Erica A Steen, Susan A Phillips","doi":"10.1530/EDM-24-0031","DOIUrl":"10.1530/EDM-24-0031","url":null,"abstract":"<p><strong>Summary: </strong>A 6.6-year-old female presented to endocrinology with precocious puberty for evaluation and management. Workup was initiated, and a diagnosis of central precocious puberty was confirmed. A decision was made to initiate pubertal blockade using gonadotropin-releasing hormone agonist (GnRHa) therapy with depot leuprolide acetate injections every 3 months. The patient received the first depot leuprolide acetate injection in the right ventrogluteal area. Six hours following the injection, the patient was reported to be inconsolable in pain, which was localized to the right hip site of the earlier injection and associated with a refusal to ambulate. The pain and discomfort continued to progress over the next 24 h despite an alternating regimen of Tylenol and ibuprofen prompting admission to the emergency department. Vital signs demonstrated a low-grade fever and elevated C-reactive protein. An ultrasound of the right hip demonstrated fluid accumulation within the joint. Over the next week, the patient was unable to walk independently and required assistance for activities of daily living. By 2 weeks after the injection, the pain began to remit, and the patient resumed activities of daily living. Following consultation with allergy, a decision was made to continue GnRHa suppressive therapy with an alternative analog (Triptodur). The patient tolerated subsequent treatment without reaction.</p><p><strong>Learning points: </strong>Although gonadotropin-releasing hormone agonists (GnRHa) have a generally good safety profile, there is a history of both local and systemic hypersensitivity reactions associated with their use. Despite the long-acting formulation of depot leuprolide acetate, the systemic reaction in this case appears to be self-limited. Discontinuation of therapy or a change to an alternative formulation of GnRHa analog should be considered based on the need for therapy versus the potential risk of rechallenge.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11378123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141996619","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
Insulinoma presenting with anti-insulin antibodies. 胰岛素瘤伴有抗胰岛素抗体。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2024-08-12 Print Date: 2024-07-01 DOI: 10.1530/EDM-24-0062
Rikako Nakajima, Daisuke Sato, Ichirota Togashi, Hiroto Idesawa, Jun Ito, Kei Ito, Masanao Fujii, Hiroaki Yagyu
{"title":"Insulinoma presenting with anti-insulin antibodies.","authors":"Rikako Nakajima, Daisuke Sato, Ichirota Togashi, Hiroto Idesawa, Jun Ito, Kei Ito, Masanao Fujii, Hiroaki Yagyu","doi":"10.1530/EDM-24-0062","DOIUrl":"10.1530/EDM-24-0062","url":null,"abstract":"<p><strong>Summary: </strong>An 89-year-old woman presented with a 6-year history of occasional episodes of impaired consciousness that were relieved by ingestion of a snack. Three months before presenting to our hospital, she had been hospitalized in a local hospital with subdural hematoma caused by a head contusion, where previously unrecognized hypoglycemia was discovered. Fasting plasma glucose concentration was 37 mg/dL, with a relatively high serum level of insulin (34.9 µU/mL). Computed tomography showed a 14 mm hyperenhancing tumor in the tail of the pancreas and she was referred to our hospital for further investigation. A prolonged fasting test revealed the plasma glucose concentration reduced to 43 mg/dL (2.4 mmol/L) at 8 h after the last meal. Serum insulin, proinsulin, and C-peptide concentrations were 21.1 µU/mL, 16.9 pmol/L, and 2.72 ng/mL, respectively. Subsequent intravenous administration of 1 mg of glucagon increased the plasma glucose concentration to 76 mg/dL (4.2 mmol/L). Moreover, the insulin-to-C-peptide molar ratio was 0.14. These data indicated the presence of insulinoma. Interestingly, serum anti-insulin antibodies were elevated (21.1 U/mL), although she had no history of taking exogenous insulin injection, alpha lipoic acid, or sulfhydryl group-containing agents. Human leukocyte antigen (HLA) typing revealed HLA-DRB1*0407 and HLA-DRB1*1405 alleles. Treatment with diazoxide prevented hypoglycemia, but was discontinued due to weight gain and leg edema. Elevated serum anti-insulin antibodies persisted almost 1 year after the diagnosis of insulinoma. We present a rare case of insulinoma concomitant with serum anti-insulin antibodies.</p><p><strong>Learning points: </strong>Insulinoma presenting with concomitant anti-insulin antibodies appears rare. Insulin/C-peptide molar ratio and serum insulin concentration are useful for differentiating insulinoma and autoimmune syndrome. Flash glucose monitoring systems appear suitable for evaluating treatment outcomes.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11378122/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141917623","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
Non-islet cell tumor hypoglycemia that required immediate surgery after a long-term asymptomatic state: recommendation for early intervention. 长期无症状后需要立即手术的非胰岛细胞瘤低血糖症:建议早期干预。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2024-08-12 Print Date: 2024-07-01 DOI: 10.1530/EDM-23-0148
Takashi Kurihara, Kanta Fujimoto, Toshio Iwakura, Yuji Hataya, Daisuke Yamashita, Naoki Matsuoka
{"title":"Non-islet cell tumor hypoglycemia that required immediate surgery after a long-term asymptomatic state: recommendation for early intervention.","authors":"Takashi Kurihara, Kanta Fujimoto, Toshio Iwakura, Yuji Hataya, Daisuke Yamashita, Naoki Matsuoka","doi":"10.1530/EDM-23-0148","DOIUrl":"10.1530/EDM-23-0148","url":null,"abstract":"<p><strong>Summary: </strong>An 82-year-old woman with a 60-year history of a lung tumor presented with hypoglycemia. Non-islet cell tumor hypoglycemia (NICTH) was suspected; however, her hypoglycemia stabilized with supplemental food. She was discharged, based on her wishes, and planned to undergo surgery later. After discharge, the hypoglycemia worsened rapidly and required immediate resection. Postoperatively, the hypoglycemia resolved. Western immunoblot analysis confirmed the presence of big insulin-like growth factor 2, confirming NICTH. This patient experienced the rapid progression of symptoms after an unprecedentedly long-term asymptomatic state. Therefore, when NICTH is suspected, early intervention is recommended regardless of the presence of asymptomatic state.</p><p><strong>Learning points: </strong>In patients with NICTH, the onset of hypoglycemia is usually within a year of tumor detection, and few reports regarding long-term asymptomatic NICTH have been documented. NICTH can cause rapidly progressive symptoms after a long-term asymptomatic state, as in this case, and an asymptomatic state does not preclude the necessity for intervention, especially when patients are at risk for malnutrition. Tumor resection is the only curative treatment for patients with NICTH, but there is no consensus regarding the timing of surgery. However, considering the possibility of rapid symptom progression, patients should be examined and treated in a timely manner.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11378120/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141983473","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 novel splicing variant in ABCA1 in the first reported Hong Kong Chinese patient with high-density lipoprotein deficiency. 首例报告的香港华裔高密度脂蛋白缺乏症患者体内的ABCA1出现新的剪接变异。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2024-08-02 Print Date: 2024-07-01 DOI: 10.1530/EDM-23-0102
Cheuk Lik Wong, Ling Yin Hung, Wai Kwan Carol Siu, Vicki Ho Kee Tam, Chloe Miu Mak
{"title":"A novel splicing variant in ABCA1 in the first reported Hong Kong Chinese patient with high-density lipoprotein deficiency.","authors":"Cheuk Lik Wong, Ling Yin Hung, Wai Kwan Carol Siu, Vicki Ho Kee Tam, Chloe Miu Mak","doi":"10.1530/EDM-23-0102","DOIUrl":"10.1530/EDM-23-0102","url":null,"abstract":"<p><strong>Summary: </strong>Low high-density lipoprotein cholesterol (HDL-C) is a risk factor for cardiovascular disease. Very low HDL-C levels (less than 20 mg/dL), however, were uncommonly seen and can be due to genetic defects involving the metabolic pathway of high-density lipoprotein (HDL). We encountered a 50-year-old Chinese man who was only noticed to have extremely low HDL-C levels after surviving recurrent episodes of myocardial infarction. Further workup revealed the undetectable level of apolipoprotein A-I, the absence of HDL on gel electrophoresis, and a novel heterozygous splicing variant in the ABCA1 gene, which was predicted to be pathogenic by in silico analysis. To the best of our knowledge, this is the first reported Hong Kong Chinese with ABCA1 deficiency and probable Tangier disease. The association of ABCA1 deficiency/Tangier disease and accelerated atherosclerosis is discussed.</p><p><strong>Learning points: </strong>Clinicians should be aware of the differential diagnoses of very low HDL-C, which could be divided into genetic and acquired causes. Genetic low HDL syndromes include apoA-I deficiency, Tangier disease, and familial LCAT deficiency, each of which has characteristic clinical features and can be differentiated from the other further by apoA-I measurement, lipoprotein analysis, and genetic testing. Patients with ABCA1 deficiency and Tangier disease are at risk of premature coronary artery disease and should be aggressively screened and treated for cardiovascular risk factors and established cardiovascular diseases. Revascularization strategy and indications for coronary artery bypass grafting in patients with Tangier disease and coronary artery disease follow that as for patients without Tangier disease.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2024 3","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11301564/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141890291","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
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