JCEM case reports最新文献

Correction to: "Acquired 11β-hydroxylase Deficiency by Inhaled Etomidate and its Analogues: A Mimic of Congenital Adrenal Hyperplasia".

JCEM case reports Pub Date : 2025-01-02 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae251

引用次数: 0

Primary Unilateral Adrenal Anaplastic Large Cell Lymphoma: Remission by Chemotherapy.

JCEM case reports Pub Date : 2024-12-06 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae229

Daisuke Goto, Yumie Takeshita, Kosuke Nagai, Hisanori Goto, Yujiro Nakano, Toshinari Takamura

引用次数: 0

Reduction of Ovarian Cysts After Endoscopic Surgery for Follicle-Stimulating Hormone-Producing Pituitary Adenoma.

JCEM case reports Pub Date : 2024-12-06 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae231

Reo Ishii, Nozomi Harai, Tadatsugu Hosokawa, Ippei Tahara, Masakazu Ogiwara, Kyoichiro Tsuchiya

{"title":"Reduction of Ovarian Cysts After Endoscopic Surgery for Follicle-Stimulating Hormone-Producing Pituitary Adenoma.","authors":"Reo Ishii, Nozomi Harai, Tadatsugu Hosokawa, Ippei Tahara, Masakazu Ogiwara, Kyoichiro Tsuchiya","doi":"10.1210/jcemcr/luae231","DOIUrl":"10.1210/jcemcr/luae231","url":null,"abstract":"A 49-year-old woman presented with irregular menstrual bleeding, elevated estradiol (E2) (665 pg/mL [2441.21 pmol/L]) (reference range [RR]: menstrual period [MP] 20-50 pg/mL; 73.42-183.55 pmol/L), unsuppressed follicle-stimulating hormone (FSH) (19.3 mIU/mL [19.3 IU/L]) (RR: MP 3.5-10.0 mIU/mL; 3.5-10.0 IU/L), and cystic ovarian enlargement (right ovary, 109 mL; left ovary, 146 mL). A 7-mm pituitary microadenoma was also observed, and 6 months after referral, endoscopic transsphenoidal surgery was performed, resulting in a diagnosis of FSH-producing pituitary adenoma. Nine months postoperatively, the ovarian cysts had markedly shrunk. Although FSH-producing pituitary adenomas are rare, approximately 64% of nonfunctioning pituitary adenomas are positive for gonadotropin immunostaining. FSH-producing pituitary adenomas are often endocrinologically silent, with symptoms typically triggered by pituitary tumor enlargement. Early diagnosis can be facilitated by measuring FSH and E2 levels in cases of irregular vaginal bleeding, abnormal menstruation, ovarian enlargement, ovarian hyperstimulation syndrome, or infertility. If E2 is elevated but FSH is not suppressed, pituitary magnetic resonance imaging should be performed to identify FSH-producing pituitary adenomas. In cases of FSH-producing pituitary adenomas, including microadenomas, symptoms may improve after tumor resection, making surgery the preferred treatment option.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 12","pages":"luae231"},"PeriodicalIF":0.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11630798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808807","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

Statin-Induced Necrotizing Autoimmune Myopathy: Diagnosis and Treatment Approach.

JCEM case reports Pub Date : 2024-12-06 eCollection Date: 2024-12-01 DOI: 10.1210/jcemcr/luae227

Varshini Srinivasan, Samyuktha Prabu, Jad G Sfeir, Kalpana Muthusamy

{"title":"Statin-Induced Necrotizing Autoimmune Myopathy: Diagnosis and Treatment Approach.","authors":"Varshini Srinivasan, Samyuktha Prabu, Jad G Sfeir, Kalpana Muthusamy","doi":"10.1210/jcemcr/luae227","DOIUrl":"10.1210/jcemcr/luae227","url":null,"abstract":"The widespread use of statins for cardiovascular diseases has unveiled a new subset of inflammatory myopathy, immune-mediated necrotizing myopathy (IMNM). We describe below an unusual case of anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy. A 64-year-old male individual with type 2 diabetes, hyperlipidemia, and coronary artery disease presented with progressive proximal muscle weakness and pain for 3 months. He took atorvastatin 40 mg for 4 years, which was discontinued due to elevated liver enzymes and resumed treatment with rosuvastatin 5 mg later due to worsening hyperlipidemia. Physical examination showed significant weakness of the hip, shoulder girdle, and biceps/triceps. Creatinine kinase (CK) was found to be 232.48 µkat/L (13 921 IU/L) (normal: 0.833-5.133 µkat/L; 50-308 IU/L). Electromyography and left vastus lateralis muscle biopsy showed findings of myonecrosis. Anti-HMGCR assay was strongly positive with antibodies > 200 chemiluminescent units (CU) (normal: 0-20 CU). He was started on prednisone followed by human-immunoglobulin (IVIG) which led to a decline in CK. Statin-induced necrotizing autoimmune myopathy (SINAM) is an exceptionally rare side effect of statins. Although statins come with a good side-effect profile, one should be aware of marked, persistent elevations in muscle enzyme levels. Prompt confirmation with antibody levels, drug discontinuation, and early initiation of immunosuppression can lead to good outcomes.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 12","pages":"luae227"},"PeriodicalIF":0.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11630794/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808822","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

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