JCEM case reports最新文献_第6页

Ectopic Cushing Syndrome Secondary to Diffuse Idiopathic Neuroendocrine Cell Hyperplasia-A Report of 2 Cases. 继发于弥漫性特发性神经内分泌细胞增生症的异位库欣综合征--2 个病例的报告。

JCEM case reports Pub Date : 2024-08-06 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae128

Raul Lopez Fanas, Travis Goettemoeller, Keerthi Cedeno, Anjali D Manavalan

{"title":"Ectopic Cushing Syndrome Secondary to Diffuse Idiopathic Neuroendocrine Cell Hyperplasia-A Report of 2 Cases.","authors":"Raul Lopez Fanas, Travis Goettemoeller, Keerthi Cedeno, Anjali D Manavalan","doi":"10.1210/jcemcr/luae128","DOIUrl":"10.1210/jcemcr/luae128","url":null,"abstract":"Ectopic ACTH secretion (EAS) accounts for 10% to 20% of all Cushing syndrome cases. Diffuse intrapulmonary neuroendocrine cell hyperplasia (DIPNECH), a poorly understood lung disease, is characterized by abnormal proliferation of neuroendocrine cells in the bronchial mucosa. It is thought to be a precursor of pulmonary carcinoid and has been associated with EAS in a handful of cases. We present 2 patients with clinical, radiological, and pathological features of DIPNECH who presented with florid Cushing syndrome secondary to EAS evidenced by rapid onset of symptoms, elevated plasma ACTH, and cortisol levels, and failed high-dose dexamethasone suppression testing. Treatment of hypercortisolism included excision of the involved lung and medical therapy with steroidogenesis inhibitors. Despite the aggressive initial management, hypercortisolism persisted. This case series highlights the importance of considering DIPNECH as a cause for Cushing syndrome in the appropriate clinical scenario and underscores the likelihood that surgery may not be curative because of the diffuse nature of this disease. Given the high mortality associated with EAS, prompt medical therapy, appropriate prophylaxis, and bilateral adrenalectomy can be lifesaving measures when initial surgery fails.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae128"},"PeriodicalIF":0.0,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11301312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141899104","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

Loss of ATRX Protein Expression in an Aggressive Null Cell Pituitary Tumor. 侵袭性零细胞垂体瘤中 ATRX 蛋白表达的缺失

JCEM case reports Pub Date : 2024-08-06 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae143

Elisa Lamback, Renan Lyra Miranda, Nina Ventura, Leila Chimelli, Mônica R Gadelha

引用次数: 0

Abdominal Obesity-Metabolic Syndrome 3 Misclassified as Type 1 Diabetes Mellitus. 腹部肥胖-代谢综合征 3 被误诊为 1 型糖尿病。

JCEM case reports Pub Date : 2024-08-06 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae120

Suhaib Radi, Lujain Bashamakh, Hayfa Mandourah, Sarah Alsharif

引用次数: 0

Neurosarcoidosis With Panhypopituitarism: Two Cases and Literature Review. 伴有垂体功能减退症的神经肉芽肿病：两例病例和文献综述

JCEM case reports Pub Date : 2024-08-06 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae141

Ewelina Niedzialkowska, Tatjana Blazin, Daniel Shelden, Eric D Buras

{"title":"Neurosarcoidosis With Panhypopituitarism: Two Cases and Literature Review.","authors":"Ewelina Niedzialkowska, Tatjana Blazin, Daniel Shelden, Eric D Buras","doi":"10.1210/jcemcr/luae141","DOIUrl":"10.1210/jcemcr/luae141","url":null,"abstract":"Neurosarcoidosis (NS) with hypothalamic-pituitary (HP) involvement (HP-NS) is a rare clinical condition, conferring variable hormonal deficits that are typically irreversible. Here, we present 2 cases of NS with panhypopituitarism. The first patient presented with cauda equina syndrome and arginine vasopressin deficiency, while the second developed recurrent optic neuritis and vision loss in the setting of a sellar mass. In the first case, neurological symptoms resolved after therapy with high-dose glucocorticoids, infliximab, and methotrexate; while in the second, visual restoration followed resection of the granulomatous tissue and immunosuppressive therapy. In both cases, pituitary dysfunction persisted despite neurological improvement. We contextualized the presentations and outcomes through a literature review of HP-NS case reports and case series. This revealed high rates of extraneurologic sarcoidosis in HP-NS patients with panhypopituitarism, while underscoring the need for hormonal replacement-as endocrinopathies rarely respond to sarcoidosis-directed immunosuppression.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae141"},"PeriodicalIF":0.0,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11301318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141899106","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 Maternally Inherited GNAS Variant in a Family With Hyperphagia and Obesity: 3 Cases. 一个患有吞咽功能亢进和肥胖症的家族中的新型母系遗传 GNAS 变体：3例

JCEM case reports Pub Date : 2024-08-05 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae125

Anand Ramakrishnan, Dillon Popat, Preetha Purushothaman, Li F Chan, Evelien F Gevers

{"title":"A Novel Maternally Inherited GNAS Variant in a Family With Hyperphagia and Obesity: 3 Cases.","authors":"Anand Ramakrishnan, Dillon Popat, Preetha Purushothaman, Li F Chan, Evelien F Gevers","doi":"10.1210/jcemcr/luae125","DOIUrl":"10.1210/jcemcr/luae125","url":null,"abstract":"GNAS variants were recently described in 1% of patients not known to have pseudohypoparathyroidism/inactivating PTH/PTHrP signalling disorder 2 in the UK Genetics of Obesity Study. We describe a new missense GNAS variant, c.791A > C, p.(Asp264Thr), in a family with obesity, hyperphagia and mild PTH resistance. A 6-year-old female (body mass index +4.3 SD score [SDS], height +1.9 SDS) presented with hyperphagia and obesity from age 3 years. She had subtle brachydactyly, macrocephaly, and mildly delayed development. The 12-year-old brother (height +2.1 SDS, body mass index +2.9 SDS) had hyperphagia, obesity, mildly delayed development, and autism. He had subtle brachydactyly, as did the affected mother. We assessed the functional effect of the mutant, measuring cAMP production in cells transfected with wild type and mutant GNAS after ligand stimulation. Cells with the mutant GNAS showed impaired cAMP generation through melanocortin receptor 4, GH releasing hormone receptor, and PTH receptor. These cases demonstrate the clinical heterogeneity of monogenic disease, suggesting a need to test for PHP1A in children with obesity even without classical signs of PHP1A.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae125"},"PeriodicalIF":0.0,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11298691/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141894948","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

SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia. SIADH是软骨发育不全婴儿磁孔狭窄的罕见并发症。

JCEM case reports Pub Date : 2024-08-05 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae144

Ayse Nurcan Cebeci, Steven Hebert, Heiko Reutter, Oliver Rompel, Joachim Woelfle

{"title":"SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia.","authors":"Ayse Nurcan Cebeci, Steven Hebert, Heiko Reutter, Oliver Rompel, Joachim Woelfle","doi":"10.1210/jcemcr/luae144","DOIUrl":"10.1210/jcemcr/luae144","url":null,"abstract":"Achondroplasia is the most common skeletal dysplasia and is associated with serious complications such as foramen magnum stenosis (FMS). This case report describes an infant with achondroplasia who presented with a syndrome of inappropriate antidiuretic hormone secretion (SIADH), secondary to significant FMS and myelocompression. A 2-month-old boy with prenatally diagnosed achondroplasia was referred due to disordered breathing and altered consciousness. On admission, apathy, hypotonus, and hypothermia with typical features of achondroplasia were noticed. Laboratory investigations revealed severe hyponatremia and hypochloridaemia with normal glucose and urea levels. The diagnosis of SIADH was made based on low serum osmolality in the presence of high urine osmolality, along with an elevated copeptin level. An emergency computerized tomography showed a high-grade stenosis at the cranio-cervical junction; subsequent magnetic resonance imaging demonstrated myelocompression. The patient underwent decompression surgery the next day; serum osmolality increased after the operation. Spontaneous breathing after extubation was sufficient whereas tetraplegia persisted despite intensive physiotherapy. Clinicians should be aware of SIADH as a presenting sign of FMS in children with achondroplasia. Further discussion is warranted regarding improving parental education and timing of screening recommendations.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae144"},"PeriodicalIF":0.0,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11298690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141894949","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 Typical Type 1 Diabetes Mellitus Onset in a Child With Salt-Wasting Congenital Adrenal Hyperplasia. 盐耗竭型先天性肾上腺皮质增生症患儿的非典型 1 型糖尿病发病情况。

JCEM case reports Pub Date : 2024-08-01 DOI: 10.1210/jcemcr/luae106

Federica Rodofile, Francesca Franco, Nicoletta Buccino, Paola Cogo

{"title":"Non Typical Type 1 Diabetes Mellitus Onset in a Child With Salt-Wasting Congenital Adrenal Hyperplasia.","authors":"Federica Rodofile, Francesca Franco, Nicoletta Buccino, Paola Cogo","doi":"10.1210/jcemcr/luae106","DOIUrl":"10.1210/jcemcr/luae106","url":null,"abstract":"Type 1 diabetes mellitus (T1DM) and congenital adrenal hyperplasia (CAH) are 2 complex endocrine disorders with neighboring genetic loci. We present a case of T1DM onset in a 6-year-old child, already affected by 21-hydroxylase deficiency (salt-wasting CAH) diagnosed at 18 days of age, who was referred to our clinic because of typical symptoms of diabetes despite nondiagnostic fasting blood glucose values. Further analysis revealed elevated glycated hemoglobin (HbA1c), low C-peptide, and specific autoantibodies suggesting the diagnosis of T1DM. Although he only started with rapid-acting insulin analogue before meals, he presented spontaneous episodes of hypoglycemia just before the morning hydrocortisone dose, due to an underdosed glucocorticoid intake. Based on continuous glycemic monitoring (CGM), his morning dose was increased and given earlier; then we decided to apply an advanced hybrid closed-loop insulin pump to maintain glycemic time in range above 70%. Fasting glucose in CAH patients can be lower due to underdosed glucocorticoid replacement therapy. HbA1c and CGM can help recognize T1DM onset and evaluate the correct dosage of corticosteroid therapy in CAH patients. New studies are needed to understand the therapeutic approach for a more specific treatment in case of coexistence of these diseases.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae106"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11293428/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141876893","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

Resistance to Thyroid Hormone Beta Due to THRB Mutation in a Patient Misdiagnosed With TSH-Secreting Pituitary Adenoma. 一名被误诊为分泌促甲状腺激素垂体腺瘤的患者因 THRB 基因突变而对甲状腺激素 Beta 产生抗药性。

JCEM case reports Pub Date : 2024-08-01 DOI: 10.1210/jcemcr/luae140

Wenjun Liao, Nipawan Waisayanand, Kanda Fanhchaksai, W Edward Visser, Marcel E Meima, Karn Wejaphikul

{"title":"Resistance to Thyroid Hormone Beta Due to THRB Mutation in a Patient Misdiagnosed With TSH-Secreting Pituitary Adenoma.","authors":"Wenjun Liao, Nipawan Waisayanand, Kanda Fanhchaksai, W Edward Visser, Marcel E Meima, Karn Wejaphikul","doi":"10.1210/jcemcr/luae140","DOIUrl":"10.1210/jcemcr/luae140","url":null,"abstract":"Elevated concentrations of T3 and T4 concomitant with nonsuppressed TSH are found in both TSH-producing tumors and resistance to thyroid hormone beta (RTHβ), posing a diagnostic challenge. We demonstrate here a 54-year-old female who presented with palpitations, goiter, and elevated free T4 with nonsuppressed TSH concentrations (TSH 2.2 mIU/L [normal range, NR 0.27-4.2 mIU/L] and FT4 59.08 pmol/L [NR 12.0-22.0 pmol/L]). Because magnetic resonance imaging revealed a pituitary microadenoma (4 mm), she was diagnosed with TSH-secreting pituitary adenoma and underwent transsphenoidal surgery. Pathological reports showed no tumor cells. Subsequent genetic testing revealed a pathogenic variant in the THRB gene resulting in a His435Arg amino acid substitution in the T3 receptor isoform beta 1 (TRβ1), suggestive of RTHβ. In vitro and ex vivo studies revealed that the His435Arg mutated TRβ1 (TRβ1-H435R) completely abolishes the T3-induced transcriptional activation, nuclear receptor corepressor 1 release, steroid receptor coactivator 1 recruitment, and T3-induced thyroid hormone target gene expression, confirming the pathogenicity of this variant. The identification of a pituitary microadenoma in a patient with RTHβ led to a misdiagnosis of a TSH-producing tumor and unnecessary surgery. Genetic testing proved pivotal for an accurate diagnosis, suggesting earlier consideration in similar clinical scenarios.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae140"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11291949/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141876894","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

Treatment of Unresectable BRAF V600E, TERT-Mutated Differentiated Papillary Thyroid Cancer With Dabrafenib and Trametinib. 用达拉菲尼和曲美替尼治疗无法切除的BRAF V600E、TERT突变分化型甲状腺乳头状癌

JCEM case reports Pub Date : 2024-07-30 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae112

Neha Bapat, Tatiana Ferraro, Layal Esper, Arjun S Joshi, Faysal Haroun, Chelsey K Baldwin

{"title":"Treatment of Unresectable BRAF V600E, TERT-Mutated Differentiated Papillary Thyroid Cancer With Dabrafenib and Trametinib.","authors":"Neha Bapat, Tatiana Ferraro, Layal Esper, Arjun S Joshi, Faysal Haroun, Chelsey K Baldwin","doi":"10.1210/jcemcr/luae112","DOIUrl":"10.1210/jcemcr/luae112","url":null,"abstract":"Complete surgical resection of differentiated papillary thyroid cancer (PTC) is associated with an excellent prognosis. However, for locally invasive PTC, disease-specific morbidity and mortality increases when microscopic margin negative resection (R0) or complete macroscopic resection (R1) is not feasible. Neoadjuvant dabrafenib and trametinib (DT) used in BRAF V600E-positive, unresectable anaplastic thyroid cancer has allowed for R0 or R1 resection and improved survival rates. We demonstrate feasibility of using neoadjuvant DT in a patient with BRAF V600E and TERT-mutated PTC for whom R0/R1 resection was initially aborted due to predicted unacceptable morbidity. The patient was treated with neoadjuvant DT for 5 months, at which time disease was undetectable on imaging with near resolution on final pathology; however, subsequent rapid recurrence after discontinuation of neoadjuvant DT occurred. Neoadjuvant DT offers promise in future cohorts of patients with locally invasive BRAF V600E and TERT-mutated PTC for whom neoadjuvant therapy can reduce surgical morbidity while still allowing for R0/R1 resection.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae112"},"PeriodicalIF":0.0,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11288368/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857309","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

Hypothyroidism-induced Rhabdomyolysis in a Pediatric Patient. 甲状腺机能减退引发的小儿横纹肌溶解症

JCEM case reports Pub Date : 2024-07-30 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae118

Hend Abd El Baky, Danika Cziranka-Crooks, Brinda Prasanna Kumar, Meghan Jacobs, Jeremy Killion, Lucy D Mastrandrea

{"title":"Hypothyroidism-induced Rhabdomyolysis in a Pediatric Patient.","authors":"Hend Abd El Baky, Danika Cziranka-Crooks, Brinda Prasanna Kumar, Meghan Jacobs, Jeremy Killion, Lucy D Mastrandrea","doi":"10.1210/jcemcr/luae118","DOIUrl":"10.1210/jcemcr/luae118","url":null,"abstract":"Hypothyroidism is a common clinical condition with nonspecific symptoms such as fatigue, cold intolerance, and constipation. Rarely, severe primary hypothyroidism presents with rhabdomyolysis. We present a 12-year-old boy with several months of fatigue, muscle cramping, and elevated creatine kinase (CK) who was found to have severe primary hypothyroidism. Initial laboratory evaluation was significant for CK 2056 U/L (reference, 0-300 U/L; 34.34 µkat/L) and creatinine 1.39 mg/dL (reference, 0.4-1 mg/dL; 122.88 µmol/L). He was admitted for management of rhabdomyolysis with acute kidney injury. Further biochemical testing revealed profound hypothyroidism-thyrotropin 494 mIU/mL (reference, 0.40-6.00 mIU/mL) and free thyroxine (T4) less than 0.4 ng/dL (reference, 0.80-1.80 ng/dL; <5.15 pmol/L). Thyroglobulin and thyroid peroxidase autoantibodies were positive, confirming autoimmune hypothyroidism. Low-dose levothyroxine was initiated. With aggressive rehydration, creatinine and CK levels improved. The patient was discharged home with instructions to escalate thyroid hormone replacement over 8 weeks. While the etiology of CK elevation in severe hypothyroidism is poorly understood, it is hypothesized that T4 deficiency alters mitochondrial oxidative capacity and glycogenolysis precipitating muscle atrophy and breakdown with CK release. This case highlights that clinicians should consider thyroid function testing in patients with symptoms of muscle pain and unexplained elevations in CK.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae118"},"PeriodicalIF":0.0,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11288370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857256","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