JCEM case reports最新文献_第3页

Hyperinsulinemic Hypoglycemia in a Patient With a Mutation in the Insulin Receptor.

JCEM case reports Pub Date : 2024-12-05 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae221

Marcus Imamovic, Mattias Vågberg, Kristina Cederquist, Per Dahlqvist

引用次数: 0

Successful Localization of Recurrent MEN-1-Associated Hyperparathyroidism With 18F-Fluorocholine PET/CT.

JCEM case reports Pub Date : 2024-12-04 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae222

Elizabeth Wootton, Clement Wong, Amanda Love, David A Pattison

引用次数: 0

Presentation and Management of Highly Differentiated Follicular Carcinoma of Ovarian Origin With DICER1 Gene Variants.

JCEM case reports Pub Date : 2024-12-04 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae223

Susan Seav, Mazen Atiq, Ying-Chun Lo, Jagruti Shah, Oliver Dorigo, Chrysoula Dosiou

{"title":"Presentation and Management of Highly Differentiated Follicular Carcinoma of Ovarian Origin With DICER1 Gene Variants.","authors":"Susan Seav, Mazen Atiq, Ying-Chun Lo, Jagruti Shah, Oliver Dorigo, Chrysoula Dosiou","doi":"10.1210/jcemcr/luae223","DOIUrl":"10.1210/jcemcr/luae223","url":null,"abstract":"Struma ovarii (SO) is a rare subtype of ovarian teratoma composed of more than 50% thyroid tissue. Extraovarian spread of SO, called peritoneal strumosis, was previously considered benign given the lack of histological malignant features. However, the 2020 World Health Organization Classification of Female Genital Tumors reclassified peritoneal strumosis as highly differentiated follicular carcinoma of ovarian origin (HDFCO), highlighting its low-grade malignant potential. We present a 38-year-old woman with SO treated initially with right salpingo-oophorectomy, with recurrence 2 years later with multifocal metastatic lesions in the abdomen and pelvis that was successfully treated with surgical resection, total thyroidectomy, and 157 mCi of I-131. Tumor molecular testing revealed a pathogenic DICER1 variant (c.5428G>T, exon 25). A second variant (c.319delins13, exon 4) was of uncertain significance. Germline testing confirmed the second DICER1 variant and also identified an increased risk variant in the APC gene (c.3920T>A). This is a rare case of extensive HFDCO with DICER1 variants, which has been associated with thyroid cancer. Given the germline DICER1 variant, this may also represent the first reported instance of DICER1 syndrome manifesting as HDFCO. Further research into the prognostic factors and optimal treatment of HFDCO is needed.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 12","pages":"luae223"},"PeriodicalIF":0.0,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11630053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808726","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

Mild Congenital Hyperinsulinism Caused by Mutation in Human Glucokinase Gene.

JCEM case reports Pub Date : 2024-12-04 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae226

Leila Salikhovna Sozaeva, Sabina Kalandarovna Ismailova, Irina Yurievna Chernyak, Sergey Vladimirovich Popov, Victoriya Vitalievna Zakharova, Igor Sergeevich Chugunov

引用次数: 0

Diazoxide-Responsive Hypoglycemia in a Child Receiving Dasatinib for Treatment of B-Cell Acute Lymphoblastic Leukemia.

JCEM case reports Pub Date : 2024-12-04 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae219

Madalin Berra, Juliana Biro, Himala Kashmiri, Mark Daniels

引用次数: 0

Pachydermoperiostosis Due to a Novel HPGD Splicing Site Mutation Masquerading as Acromegaly.

JCEM case reports Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae215

Mussa Almalki, Balgees Alghamdi, Allianah Benito, Ahmed Alfares, Ali S Alzahrani

{"title":"Pachydermoperiostosis Due to a Novel HPGD Splicing Site Mutation Masquerading as Acromegaly.","authors":"Mussa Almalki, Balgees Alghamdi, Allianah Benito, Ahmed Alfares, Ali S Alzahrani","doi":"10.1210/jcemcr/luae215","DOIUrl":"10.1210/jcemcr/luae215","url":null,"abstract":"Hypertrophic osteoarthropathy (HOA: MIM 167100)) is classified into primary and secondary types. Primary HOA, also known as pachydermoperiostosis (PDP), is a rare genetic condition with distinct clinical features including digital clubbing, skin thickening, and periostosis. Secondary HOA often occurs as a paraneoplastic syndrome or is associated with systemic diseases. In this report, we present a 17-year-old male patient who initially presented with significant digital clubbing, enlarged hands and feet, and excessive sweating. Although the initial suspected diagnosis was acromegaly, the patient's plasma level of insulin-like growth factor 1 was normal and growth hormone levels suppressed to <1 ng/dL following oral glucose tolerance test. Whole exome sequencing followed by Sanger sequencing of leukocyte deoxyribonucleic acid revealed a novel splicing variant in the 15-hydroxyprostaglandin dehydrogenase (HPGD) gene (NM_000860.6: c.662 + 5_662 + 8del). Reverse transcription polymerase chain reaction confirmed that this variant led to defective splicing with skipping of exon 6, a frameshift, and truncation at codon 13 of exon 7 downstream. His symptoms did not respond well to nonsteroidal anti-inflammatory drugs but showed excellent response to a trial of lanreotide autogel that has been used for about 1 year.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 12","pages":"luae215"},"PeriodicalIF":0.0,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11630786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808724","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

Empagliflozin-induced Myopathy.

JCEM case reports Pub Date : 2024-11-28 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae216

Sana Khan, Ashley Broce

引用次数: 0

Severe, Symptomatic Hypercalcemia Secondary to PTH-secreting Pancreatoblastoma.

JCEM case reports Pub Date : 2024-11-28 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae217

Anand D Gandhi, James D McCallum, Jonathan S Fisher

{"title":"Severe, Symptomatic Hypercalcemia Secondary to PTH-secreting Pancreatoblastoma.","authors":"Anand D Gandhi, James D McCallum, Jonathan S Fisher","doi":"10.1210/jcemcr/luae217","DOIUrl":"10.1210/jcemcr/luae217","url":null,"abstract":"Hypercalcemia may be induced by a variety of etiologies, most commonly primary hyperparathyroidism. Although primary hyperparathyroidism represents a relatively common endocrinological disorder, ectopic PTH secretion is a rare entity that is less well described in literature. We describe the first case to our knowledge of severe, symptomatic hypercalcemia found to be secondary to a PTH-secreting pancreatoblastoma. The patient initially presented with fatigue and progressive upper extremity intermittent muscular twitching. He was found to have biochemical evidence of primary hyperparathyroidism. A computed tomography scan of the neck and a sestamibi nuclear scan failed to definitively demonstrate a parathyroid adenoma or hyperplasia and bilateral surgical parathyroid exploration was unrevealing for any pathology. Abdominal imaging via computed tomography was obtained for evaluation of progressive postoperative epigastric pain, and the patient was found to have a retroperitoneal mass that, after biopsy, was diagnostic for a pancreatoblastoma. This mass was resected resulting in a fall in intraoperative PTH values and subsequent postoperative hypocalcemia secondary to hungry bone syndrome. Upon follow-up, the patient's parathyroid function recovered and doses of supplemental calcium and vitamin D could be tapered. Ectopic PTH-secreting masses represent a rare entity but should be considered in individuals with unclear etiology of recalcitrant primary hyperparathyroidism.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 12","pages":"luae217"},"PeriodicalIF":0.0,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11604075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752499","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 11β-hydroxylase Deficiency by Inhaled Etomidate and its Analogues: A Mimic of Congenital Adrenal Hyperplasia. 通过吸入依托咪酯及其类似物获得的 11β- 羟化酶缺乏症：先天性肾上腺增生症的模拟物

JCEM case reports Pub Date : 2024-11-20 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae207

Choi Yee Lau, Yee Ting Tommy Cheung, Tsz Mo Andrea Han, Chun Ming Jeremy Chung, Yeow Kuan Chong, Pak Lam Sammy Chen

引用次数: 0

Calcitriol-Mediated Hypercalcemia Due to Liver Metastases in a Patient With Primary Pancreatic Neuroendocrine Tumor. 一名原发性胰腺神经内分泌肿瘤患者因肝脏转移导致的降钙素三醇介导的高钙血症

JCEM case reports Pub Date : 2024-11-14 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae209

Katherine I Wolf, Oxana V Crysler, Robert Fontana, Sima Saberi

{"title":"Calcitriol-Mediated Hypercalcemia Due to Liver Metastases in a Patient With Primary Pancreatic Neuroendocrine Tumor.","authors":"Katherine I Wolf, Oxana V Crysler, Robert Fontana, Sima Saberi","doi":"10.1210/jcemcr/luae209","DOIUrl":"10.1210/jcemcr/luae209","url":null,"abstract":"Hypercalcemia is most commonly associated with primary hyperparathyroidism or malignancy in the setting of elevated parathyroid hormone-related protein or bone metastases. Calcitriol (1,25-dihydroxyvitamin D)-mediated hypercalcemia is rare and typically associated with granulomatous conditions; however, other solid-organ etiologies have been reported. Here, we detail the case of a 62-year-old man with metastatic pancreatic neuroendocrine tumor (pNET) with hypercalcemia refractory to traditional bisphosphonate therapy in the setting of vastly elevated 1,25-dihydroxyvitamin D. Only after initiation of chemotherapy with capecitabine and temozolomide did his serum calcium consistently improve and 1,25-dihydroxyvitamin D begin to decrease. There are fewer than 5 reported cases of a pNET resulting in calcitriol-mediated hypercalcemia. Prompt initiation of treatment for the underlying condition can result in a significant improvement in serum calcium or 1,25-dihydroxyvitamin D. Multiple reports have also demonstrated success with high-dose steroid administration in patients with other solid-organ etiologies of calcitriol-mediated hypercalcemia, but this has not yet been reviewed in the pNET population.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 12","pages":"luae209"},"PeriodicalIF":0.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11561906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142633984","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