JCEM case reports最新文献_第7页

Transformation of a Benign Adrenocortical Adenoma to a Metastatic Adrenocortical Carcinoma Is Rare But It Happens. 良性肾上腺皮质腺瘤转变为转移性肾上腺皮质癌虽然罕见，但确实存在。

JCEM case reports Pub Date : 2024-07-30 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae131

Anna Angelousi, Anne Jouinot, Charis Bourgioti, Panagiotis Tokmakidis, Jérôme Bertherat, Gregory Kaltsas

{"title":"Transformation of a Benign Adrenocortical Adenoma to a Metastatic Adrenocortical Carcinoma Is Rare But It Happens.","authors":"Anna Angelousi, Anne Jouinot, Charis Bourgioti, Panagiotis Tokmakidis, Jérôme Bertherat, Gregory Kaltsas","doi":"10.1210/jcemcr/luae131","DOIUrl":"10.1210/jcemcr/luae131","url":null,"abstract":"The transformation of an adrenocortical adenoma (ACA) to an adrenocortical carcinoma (ACC) is extremely rare. Current guidelines suggest against further imaging studies and follow-up in patients with nonfunctional adrenal incidentalomas (NFAIs) with benign imaging characteristics. Herein, we present a 64-year-old male patient diagnosed initially with a NFAI of 3 cm in size with imaging characteristics consistent with an ACA. However, 13 years after initial diagnosis, this apparent ACA developed into a high-grade cortisol and androgen-secreting ACC with synchronous metastases. The literature review revealed a further 9 case reports of adrenal incidentalomas initially characterized as ACA that subsequently developed into ACC within a period ranging from 1 to 10 years. The pathogenesis of transformation of an initially denoted ACA to ACC is not fully delineated, although the existing literature focuses on the preexisting or changing genetic background of these lesions, highlighting the need to develop robust prognostic markers to identify patients at risk and individualize the follow-up of these unique cases.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae131"},"PeriodicalIF":0.0,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11288369/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857308","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

Paraneoplastic Diarrhea From Medullary Thyroid Carcinoma Resolved With Yttrium-90 Radioembolization of Liver Metastases. 甲状腺髓样癌引起的副肿瘤性腹泻通过钇-90放射性栓塞肝转移灶得以缓解

JCEM case reports Pub Date : 2024-07-29 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae103

Sarah Hamidi, Armeen Mahvash, Mimi I Hu

引用次数: 0

Neonatal Graves Disease Masquerading as Hemochromatosis. 伪装成血色素沉着病的新生儿巴塞杜氏病

JCEM case reports Pub Date : 2024-07-24 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae132

Liesbeth Maggiotto, Steven D Mittelman, Roja Fallah

引用次数: 0

Hyperthyroidism Due to Functioning Metastatic Bone Lesions of Follicular Thyroid Carcinoma Treated With Lenvatinib. 伦伐替尼治疗滤泡性甲状腺癌功能转移性骨病变导致的甲状腺功能亢进症

JCEM case reports Pub Date : 2024-07-24 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae139

Tomoko Kobayashi, Shintaro Iwama, Koji Suzuki, Hiroshi Arima

引用次数: 0

A Germline ZFX Missense Variant in a Patient With Primary Hyperparathyroidism. 一名原发性甲状旁腺功能亢进症患者的基因ZFX缺义变异体

JCEM case reports Pub Date : 2024-07-24 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae115

Bin Guan, Sunita K Agarwal, James M Welch, Smita Jha, Lee S Weinstein, William F Simonds

{"title":"A Germline ZFX Missense Variant in a Patient With Primary Hyperparathyroidism.","authors":"Bin Guan, Sunita K Agarwal, James M Welch, Smita Jha, Lee S Weinstein, William F Simonds","doi":"10.1210/jcemcr/luae115","DOIUrl":"10.1210/jcemcr/luae115","url":null,"abstract":"A 51-year-old woman with a history of primary hyperparathyroidism (PHPT) with prior parathyroidectomy, osteoporosis, and learning disability was referred for hypercalcemia discovered after a fall. Family history was negative for PHPT, pituitary, enteropancreatic neuroendocrine, or jaw tumors. Dysmorphic facies, multiple cutaneous melanocytic nevi, café au lait macules, long fingers, and scoliosis were observed. Laboratory evaluation showed an elevated parathyroid hormone (PTH) level, hypercalcemia, and hypophosphatemia, all consistent with PHPT. Preoperative imaging revealed a right inferior candidate parathyroid lesion. The patient underwent right inferior parathyroidectomy with normalization of PTH, calcium, and phosphorus. Genetic testing showed a likely pathogenic de novo heterozygous germline missense variant p.R764W in the ZFX gene that encodes a zinc-finger transcription factor previously shown to harbor somatic missense variants in a subset of sporadic parathyroid tumors. Germline variants in ZFX have been reported in patients with an X-linked intellectual disability syndrome with an increased risk for congenital anomalies and PHPT. Further research may determine if genetic testing for ZFX could be of potential benefit for patients with PHPT and developmental anomalies, even in the absence of a family history of parathyroid disease.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae115"},"PeriodicalIF":0.0,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11267473/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141763044","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

DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis. 迪乔治综合征在 38 岁时被确诊：低资源环境下的挑战与漏诊的影响》。

JCEM case reports Pub Date : 2024-07-24 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae136

William Kuenstner, Suthee Rapisuwon, Leila Shobab

{"title":"DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis.","authors":"William Kuenstner, Suthee Rapisuwon, Leila Shobab","doi":"10.1210/jcemcr/luae136","DOIUrl":"https://doi.org/10.1210/jcemcr/luae136","url":null,"abstract":"22q11.2 deletion syndrome (22.q11.2 DS) is a genetic syndrome resulting from a microdeletion on chromosome 22. It has a diverse array of manifestations, and most cases are diagnosed early in childhood. We present the case of a 38-year-old female born in a developing country who presented to our clinic to establish care for a history of primary hypothyroidism. She was clinically and biochemically euthyroid on thyroid supplementation. She was also noted to have hypocalcemia in the setting of low PTH, for which the patient was previously prescribed calcitriol. Given a history of cleft palate, abnormal facial features, mild recurrent sinopulmonary infections, and her endocrine history (including short stature with height in the 6th percentile), genetic testing was obtained. She was diagnosed with a heterozygous whole gene deletion of the TBX1 gene. Additional genetic evaluation demonstrated a 2.6-Mb microdeleted segment of the 22a11.2 region encompassing 62 genes. The patient was referred to cardiology for evaluation of cardiac involvement given a history of tachyarrhythmia. This case highlights challenges in diagnosis and the implications of a delayed diagnosis of 22.q11.2 DS.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae136"},"PeriodicalIF":0.0,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11267221/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141763040","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

Long-term Evolution of Hypophosphatemia and Osteomalacia in a Patient With Multiple Myeloma. 一名多发性骨髓瘤患者低磷血症和骨软化症的长期发展过程

JCEM case reports Pub Date : 2024-07-24 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae137

Alireza Zomorodian, Naim M Maalouf

{"title":"Long-term Evolution of Hypophosphatemia and Osteomalacia in a Patient With Multiple Myeloma.","authors":"Alireza Zomorodian, Naim M Maalouf","doi":"10.1210/jcemcr/luae137","DOIUrl":"https://doi.org/10.1210/jcemcr/luae137","url":null,"abstract":"Multiple myeloma commonly manifests with symptoms arising from the involvement of various organs, particularly the bone and kidneys. In this report, we detail the case of a 44-year-old man who was diagnosed with multiple myeloma associated with reduced bone density. He exhibited clinical findings of osteomalacia due to Fanconi syndrome (characterized clinically by bone pain and proximal weakness and biochemically by elevated serum alkaline phosphatase, hypophosphatemia, hypouricemia, and glucosuria). With phosphate replacement, there was a notable improvement in bone pain, osteomalacia, and bone mineral density. Nevertheless, the patient continued to experience renal wasting of phosphate, uric acid, and glucose despite achieving remission from multiple myeloma for nearly 2 years. Our case highlights several important clinical features of myeloma-associated Fanconi syndrome, including the need to recognize this complication to appropriately treat the underlying bone disease while avoiding osteoclast inhibitors and the long-term persistence of the proximal renal tubulopathy despite achieving remission from myeloma and correction of osteomalacia.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae137"},"PeriodicalIF":0.0,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11267226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141763042","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

Type 1 Diabetes in a Pediatric Patient With Beckwith-Wiedemann Syndrome. 一名患有贝克维特-维德曼综合征的儿童患者患上了 1 型糖尿病。

JCEM case reports Pub Date : 2024-07-18 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae122

Lubaina Ehsan, Reem Anz, Hannah Asebes, Nikoli Nickson, Berrin Ergun-Longmire

{"title":"Type 1 Diabetes in a Pediatric Patient With Beckwith-Wiedemann Syndrome.","authors":"Lubaina Ehsan, Reem Anz, Hannah Asebes, Nikoli Nickson, Berrin Ergun-Longmire","doi":"10.1210/jcemcr/luae122","DOIUrl":"10.1210/jcemcr/luae122","url":null,"abstract":"Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth syndrome with multiple clinical manifestations, including hypoglycemia. Various genetic alterations leading to BWS have been described. Literature has also described the association between BWS and congenital diabetes, but little is known about the association with type 1 diabetes (T1D). We report a 4-year-old female patient with co-occurring BWS and T1D. The patient presented with 2.4-kilogram weight loss in 3 months accompanied by headache, polyuria, and polydipsia. Initial workup showed blood glucose of 681 mg/dL (37.8 mmol/L). Additional workup revealed marked elevation of the glutamic acid decarboxylase 65 and insulin antibodies, confirming the diagnosis of T1D. The patient's initial genetic test results revealed BWS caused by hypomethylation of the imprinting center 2 (IC2) found on maternal chromosome 11. Concurrence of BWS and T1D is rare and there are cases previously described where BWS has co-occurred with congenital diabetes but not T1D. Although the etiology of acquired autoimmunity is unclear, the answer may lie in genetic analysis or autoimmunity secondary to preceding viral illness. Regardless of the etiology, this case emphasizes further exploration of the association between BWS and T1D.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae122"},"PeriodicalIF":0.0,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11255477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141725167","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

Adrenocortical Tumor Associated With Pathogenic Variant in KCNJ5 and DNA Methylation of CYP11B2 in Primary Aldosteronism. 肾上腺皮质肿瘤与原发性醛固酮增多症中 KCNJ5 的致病性变异和 CYP11B2 的 DNA 甲基化有关

JCEM case reports Pub Date : 2024-07-18 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae119

Ko Aiga, Mitsuhiro Kometani, Masashi Demura, Takashi Yoneda

{"title":"Adrenocortical Tumor Associated With Pathogenic Variant in KCNJ5 and DNA Methylation of CYP11B2 in Primary Aldosteronism.","authors":"Ko Aiga, Mitsuhiro Kometani, Masashi Demura, Takashi Yoneda","doi":"10.1210/jcemcr/luae119","DOIUrl":"10.1210/jcemcr/luae119","url":null,"abstract":"Primary aldosteronism (PA) is a subtype of secondary hypertension categorized as either unilateral PA (eg, aldosterone-producing adenoma [APA]) or bilateral PA. CYP11B2, an aldosterone synthase, is highly expressed in APA. Recent studies have revealed a high prevalence of pathogenic variants in KCNJ5 and the role of DNA methylation on CYP11B2 in APA. We present a case of unilateral PA with pathogenic variants in KCNJ5 and suppressed CYP11B2 expression. A 55-year-old woman with hypertension was referred to our hospital. A high aldosterone-renin ratio was observed; PA was confirmed using the captopril challenge test and the furosemide upright test. Although computed tomography showed no evident tumors in either adrenal gland, adrenal vein sampling revealed left gland dominance. Postoperatively, the aldosterone-renin ratio decreased and captopril challenge test showed negative findings. Pathogenic variants in the KCNJ5 were detected in the adenoma. Although immunohistochemistry for CYP11B2 was negative in adenoma, an aldosterone-producing cell cluster was confirmed in the adjacent left adrenal gland. Furthermore, DNA methylation analysis of the adenoma indicated hypermethylation in the CYP11B2 promoter region. The pathogenic variant in KCNJ5, specific to APA, induces CYP11B2 overexpression, resulting in excess aldosterone. However, these effects can be suppressed by DNA methylation.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae119"},"PeriodicalIF":0.0,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11255478/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141725165","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

Novel Approach for Treating Diabetes in a Patient With the Heterozygous Pathogenic Variant R46Q in the Insulin Gene. 治疗胰岛素基因杂合子致病变异体 R46Q 患者糖尿病的新方法

JCEM case reports Pub Date : 2024-07-18 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae134

Kristina Laugesen, Søren Gregersen, Julie Støy

{"title":"Novel Approach for Treating Diabetes in a Patient With the Heterozygous Pathogenic Variant R46Q in the Insulin Gene.","authors":"Kristina Laugesen, Søren Gregersen, Julie Støy","doi":"10.1210/jcemcr/luae134","DOIUrl":"10.1210/jcemcr/luae134","url":null,"abstract":"Maturity-onset diabetes of the young (MODY) is a monogenic disorder of glucose homeostasis with several subtypes, each defined by a distinct genetic etiology. Heterozygous pathogenic variants in the insulin gene are rare causes of MODY, and optimal treatment strategies remain uncertain. Herein we describe a patient with diabetes caused by the heterozygous pathogenic variant R46Q in the insulin gene and the glycemic response to selected antidiabetic treatment regimens. The R46Q pathogenic variant leads to secretion of both mutant and wild-type insulin. In vitro, the mutant insulin is associated with a lower insulin-receptor affinity compared with wild-type insulin and a decline in wild-type insulin secretion. In our patient, treatment with a combination of long- and short-acting insulin led to a decline in hemoglobin A1C (HbA1c), although not to the recommended target. A shift to metformin and subsequent add-on of a sodium-glucose cotransporter 2 inhibitor (SGLT2i) resulted in HbA1c levels of less than 7% (53 mmol/mol) and durable glycemic control. Continuous glucose monitoring and oral glucose tolerance tests confirmed that treatment with metformin and SGLT2i was superior to treatment with insulin. In conclusion, diabetes caused by the pathogenic variant R46Q in the insulin gene may be effectively treated with noninsulin.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae134"},"PeriodicalIF":0.0,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11255476/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141725166","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