JCEM case reports最新文献_第9页

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

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