JCEM case reports最新文献_第6页

Remission of Insulin-Dependent Diabetes Mellitus in Multiple Endocrine Neoplasia Type 2A After Adrenalectomy. 肾上腺切除术后多发2A型内分泌瘤患者胰岛素依赖性糖尿病的缓解。

JCEM case reports Pub Date : 2025-01-09 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae240

Megumi Sato, Michio Otsuki, Tomomi Mori, Juro Yanagida, Toshiyuki Yamamoto, Tomoko Nakagami

{"title":"Remission of Insulin-Dependent Diabetes Mellitus in Multiple Endocrine Neoplasia Type 2A After Adrenalectomy.","authors":"Megumi Sato, Michio Otsuki, Tomomi Mori, Juro Yanagida, Toshiyuki Yamamoto, Tomoko Nakagami","doi":"10.1210/jcemcr/luae240","DOIUrl":"10.1210/jcemcr/luae240","url":null,"abstract":"A 37-year-old man presented with symptoms of polyuria and weight loss over the past year. Initial laboratory examination showed elevated blood glucose level (468 mg/dL [25.9 mmol/L]; normal reference range [RR], 75-109 mg/dL [4.1-6.0 mmol/L]), high glycated hemoglobin A1c (13.2% [120 mmol/mol]; RR, 4.6-6.2% [26-44 mmol/mol]), low urinary C-peptide excretion (17.4 μg/day [5.76 nmol/day]; RR, 18.3-124.4 μg/day [6.0-41.1 nmol/day]), and ketosis, leading to a diagnosis of insulin-dependent diabetes mellitus. Subsequent investigations identified medullary thyroid carcinoma and bilateral pheochromocytomas. Given the detected RET gene variant and the patient's family history of multiple endocrine neoplasia type 2A (MEN2A), the diagnosis of MEN2A was confirmed. Upon hospital admission, intensive insulin therapy was commenced, which resolved the symptoms and normalized blood glucose levels. Subsequently, laparoscopic bilateral adrenalectomy was performed, after which the patient's glucose tolerance normalized, eliminating the need for diabetes treatment and avoiding hypoglycemia. This case highlights the potential for catecholamine-induced suppression of insulin secretion via α2 action on pancreatic β-cells to be remission and rapidly improved by adrenalectomy in individuals with MEN2A experiencing insulin-dependent diabetes mellitus.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae240"},"PeriodicalIF":0.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142959928","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

Correction to: "Acquired 11β-hydroxylase Deficiency by Inhaled Etomidate and its Analogues: A Mimic of Congenital Adrenal Hyperplasia". 更正：“吸入依托咪酯及其类似物引起的获得性11β-羟化酶缺乏：先天性肾上腺增生的模拟物”。

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

引用次数: 0

Incident Vertebral Fractures During Romosozumab Treatment in a Patient With a Pathogenic LRP5 Variant. 致病性LRP5变异患者在Romosozumab治疗期间发生椎体骨折

JCEM case reports Pub Date : 2024-12-26 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae238

Evert F S van Velsen, Mark Wijnen, Galied S R Muradin, M Carola Zillikens

{"title":"Incident Vertebral Fractures During Romosozumab Treatment in a Patient With a Pathogenic LRP5 Variant.","authors":"Evert F S van Velsen, Mark Wijnen, Galied S R Muradin, M Carola Zillikens","doi":"10.1210/jcemcr/luae238","DOIUrl":"10.1210/jcemcr/luae238","url":null,"abstract":"A defect in the canonical Wnt-β-catenin pathway may lead to reduced bone strength and increased fracture risk. Sclerostin is a key inhibitor of this pathway by binding to low-density lipoprotein (LDL) receptor-related protein (LRP)-5/6, thereby reducing bone formation. The effectiveness of romosozumab, a human monoclonal antibody that binds sclerostin and prevents this inhibitory effect, has been questioned in patients with inactivating genetic variants in LRP5 or LRP6. We present a 67-year-old woman with severe osteoporosis with 4 grade 2 vertebral fractures due to a heterozygous pathogenic variant in LRP5. She was treated with romosozumab for 1 year, after which a routine follow-up spine x-ray revealed 5 new vertebral fractures, despite a strong increase in bone mineral density (BMD) (lumbar spine [LS] + 58%; femur neck [FN] + 23%), although overestimated at LS because of the vertebral fractures. This suggests that in patients with loss-of-function LRP5 variants, romosozumab is able to increase BMD. However, it is unclear whether the progressive vertebral fractures are due to the severe osteoporosis in relation to the start of romosozumab or a diminished responsiveness related to her LRP5 variant. Further evaluation is needed on the effect of romosozumab on BMD and fracture outcomes in patients with a likely defective LRP5/6 receptor.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae238"},"PeriodicalIF":0.0,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11669863/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900975","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 4-year-old Boy Positive for Anti-rabphilin-3A Antibody and Diagnosed With Lymphocytic Infundibuloneurohypophysitis. 1例4岁男童抗rabphilin- 3a抗体阳性，诊断为淋巴细胞性大泡神经垂体炎。

JCEM case reports Pub Date : 2024-12-26 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae214

Akiko Yamamoto, Nagisa Komatsu, Naoko Iwata, Haruki Fujisawa, Atsushi Suzuki, Yoshihisa Sugimura

{"title":"A 4-year-old Boy Positive for Anti-rabphilin-3A Antibody and Diagnosed With Lymphocytic Infundibuloneurohypophysitis.","authors":"Akiko Yamamoto, Nagisa Komatsu, Naoko Iwata, Haruki Fujisawa, Atsushi Suzuki, Yoshihisa Sugimura","doi":"10.1210/jcemcr/luae214","DOIUrl":"10.1210/jcemcr/luae214","url":null,"abstract":"Lymphocytic infundibuloneurohypophysitis (LINH) is a disease with an etiology involving an autoimmune mechanism, characterized by lymphocytic inflammation of the posterior pituitary and infundibular stalk, resulting in arginine vasopressin deficiency. It is difficult to distinguish from pituitary neoplasm or infiltrative diseases, and biopsy is necessary for a definitive diagnosis, but this is highly invasive. In children, it is especially important to distinguish LINH from tumors such as germ cell tumors. Recently, the usefulness of anti-rabphilin-3A antibody as a serum marker for LINH has been reported. To date, only a limited number of pediatric cases have been reported. We present a 4-year-old boy with arginine vasopressin deficiency. Magnetic resonance imaging of the head showed thickening of the pituitary stalk without a posterior pituitary bright spot, and anti-rabphilin-3A antibody was positive. Consequently, pituitary biopsy was not performed because of the strong suspicion of LINH. Five months after symptom onset, the pituitary stalk thickening had resolved. This case represents the first report of probable or definitive LINH with anti-rabphilin-3A antibody positivity in a 4-year-old child, making it the youngest positive case reported to date. Our case highlights the importance of noninvasive approaches and careful follow-up to avoid invasive interventions for children with LINH.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae214"},"PeriodicalIF":0.0,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11669861/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900953","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

An Infant With DHX37 Variant: A Novel Etiology of 46,XY DSD and Literature Review. 一名DHX37变异婴儿：46xy DSD的新病因及文献综述。

JCEM case reports Pub Date : 2024-12-26 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae239

R Sena Turk Yilmaz, Adam B Hittelman, Alla Vash-Margita, Catherine Dinauer, Stuart A Weinzimer, Jasmine Gujral

{"title":"An Infant With DHX37 Variant: A Novel Etiology of 46,XY DSD and Literature Review.","authors":"R Sena Turk Yilmaz, Adam B Hittelman, Alla Vash-Margita, Catherine Dinauer, Stuart A Weinzimer, Jasmine Gujral","doi":"10.1210/jcemcr/luae239","DOIUrl":"10.1210/jcemcr/luae239","url":null,"abstract":"46,XY sex reversal 11 (SRXY11) is a rare and recently identified form of 46,XY difference in sexual development (DSD), caused by variants in the DEAH-Box Helicase 37 gene (DHX37). DHX37 is crucial for ribosome biogenesis, but its specific role in gonadal development remains unclear. The genital phenotype varies widely, ranging from typical female to typical male. We present a 46,XY infant with prenatal ultrasound findings of atypical genitalia. Amniotic fluid gene analysis revealed a known heterozygous pathogenic variant in DHX37, p.R308Q (c.923G>A), confirmed postnatally. The patient was born with markedly undervirilized genitalia with posteriorly fused labioscrotal folds, a single introitus, no clitoromegaly, and nonpalpable gonads. Laboratory evaluation at multiple points showed undetectable anti-Müllerian hormone (AMH) and inhibin B levels, elevated gonadotropin levels, and negligible testosterone levels. Clinical course was complicated by urine retention in the vagina and uterus and hydronephrosis requiring catheterization. Endoscopy revealed a urogenital sinus with separate urethral and vaginal openings and 2 cervices leading into 2 separate uteri suggestive of a bicornuate bicollis uterus. Laparoscopy revealed 2 intra-abdominal gonads adjacent to the fallopian tubes. Evidence for inheritance, penetrance, genotype-phenotype correlation, and risk of malignancy in SRXY11 is limited to case reports.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae239"},"PeriodicalIF":0.0,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11669865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900959","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

First Reported Case of Hemoglobin Graz in the United States: Implications for Misleading Hemoglobin A_1c Results. 美国首次报道的血红蛋白Graz病例：对误导血红蛋白A1c结果的影响。

JCEM case reports Pub Date : 2024-12-26 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae242

Luke Miller, Yaniv Maddahi, Matthew Shelly, Sudip Nanda, Mohammad Ishaq Arastu

{"title":"First Reported Case of Hemoglobin Graz in the United States: Implications for Misleading Hemoglobin A1c Results.","authors":"Luke Miller, Yaniv Maddahi, Matthew Shelly, Sudip Nanda, Mohammad Ishaq Arastu","doi":"10.1210/jcemcr/luae242","DOIUrl":"10.1210/jcemcr/luae242","url":null,"abstract":"Routine serum studies in a female patient with sustained prediabetic glycated hemoglobin A1c (HbA1c) levels, controlled on metformin, yielded an unexpected finding: an elevated HbA1c value of ≥14.9% (≥139 mmol/mol) (normal reference range, <5.7% to <39 mmol/mol). Estimated average glucose (EAG) (normal reference range, <126 mg/dL to <7 mmol/L) is a linearly corresponding blood glucose value calculated from HbA1c measurements that reflects the average glycemic status over the preceding 3 months. Caution must be used when the EAG provided by the HbA1c does not align with blood glucose values obtained around the same period. Our patient carries a rare heterozygous pathogenic variant affecting the β subunit called hemoglobin Graz (Hb Graz), characterized by a histidine for leucine substitution, resulting in clinically silent Hb abnormalities. Individuals without diabetes carrying the Hb Graz pathogenic variant exhibit significantly higher HbA1c values when analyzed by high-performance liquid chromatography. Alternative methods of quantifying glycemic control are suggested if the possibility of a confounding variable exists, such as when a HbA1c-blood glucose mismatch occurs or unexplainable HbA1c levels are detected.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae242"},"PeriodicalIF":0.0,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11669862/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900962","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 Rare Case of Testosterone-Producing Non-Seminoma Germ-Cell Testicular Cancer. 1例罕见的产生睾酮的非精原细胞瘤生殖细胞睾丸癌。

JCEM case reports Pub Date : 2024-12-26 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae244

Sarah-Ålivia Mänd, Åke Sjöholm

引用次数: 0

Metastatic Pheochromocytoma/Paraganglioma Overproducing Multiple Catecholamines. 转移性嗜铬细胞瘤/副神经节瘤过量产生多种儿茶酚胺。

JCEM case reports Pub Date : 2024-12-26 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae241

Keiko Yoshioka, Yujiro Nakano, Moeka Horichi, Daisuke Aono, Yumie Takeshita, Toshinari Takamura

{"title":"Metastatic Pheochromocytoma/Paraganglioma Overproducing Multiple Catecholamines.","authors":"Keiko Yoshioka, Yujiro Nakano, Moeka Horichi, Daisuke Aono, Yumie Takeshita, Toshinari Takamura","doi":"10.1210/jcemcr/luae241","DOIUrl":"10.1210/jcemcr/luae241","url":null,"abstract":"Pheochromocytoma and paraganglioma (PPGL) are rare chromaffin-cell tumors producing adrenaline and/or noradrenaline, or solely dopamine. A 52-year-old man presenting with hypertension (141/79 mm Hg) and weight loss (10 kg in 6 months) was admitted to our hospital. Computed tomography revealed a massive right adrenal mass (150 mm) with partial necrosis, accompanied by multiple liver nodules. These nodules showed a high signal intensity on T2-weighted magnetic resonance imaging. Subsequently, a diagnosis of PPGL was made based on elevated urinary excretion of adrenaline (355 µg/day [1937 nmol/day]; normal range: 3.4-26.9 µg/day; 18-146 nmol/day), noradrenaline (1690 µg/day [9989 nmol/day]; normal range: 48.6-168.4 µg/day; 287-995 nmol/day), and dopamine (53 000 µg/day [258 322 nmol/day]; normal range: 365-961.5 µg/day; 1779-4686 nmol/day). The 123I-metaiodobenzylguanidine scintigraphy and fluorodeoxyglucose positron emission tomography scan showed heterogenous uptake among the adrenal and the liver foci, respectively. Clustering analysis of previous PPGL cases highlighted the unique catecholamine profile of this case. These findings suggest a possibility that internodular heterogeneity between primary and metastatic foci on nuclear imaging may indicate varying differentiation grades and resultant catecholamine secretion. Further studies will be needed to verify these results and confirm this hypothesis.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae241"},"PeriodicalIF":0.0,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11669864/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900977","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 Unique Phenotype of Maturity-Onset Diabetes of the Young With a Novel Disease-Causing Insulin Gene Variant. 一种具有新型致病胰岛素基因变异的青年成熟型糖尿病的独特表型

JCEM case reports Pub Date : 2024-12-23 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae230

Cherie Chua, Clara Si Hua Tan, Su Chi Lim, Rashida Farhad Vasanwala

{"title":"A Unique Phenotype of Maturity-Onset Diabetes of the Young With a Novel Disease-Causing Insulin Gene Variant.","authors":"Cherie Chua, Clara Si Hua Tan, Su Chi Lim, Rashida Farhad Vasanwala","doi":"10.1210/jcemcr/luae230","DOIUrl":"10.1210/jcemcr/luae230","url":null,"abstract":"Maturity-onset diabetes of the young (MODY) represents 1% to 5% of patients with diabetes mellitus (DM), and numerous genes associated with MODY have been identified. While mutations of the insulin gene (INS) are known to cause permanent neonatal DM, rare disease-causing variants have also been found in MODY. These patients demonstrate variable clinical phenotypes-from milder forms requiring lifestyle or oral agent interventions to severe forms requiring lifelong insulin. We present a case of MODY arising from a novel disease-causing INS variant, in an adolescent with atypical features. He was obese with clinical evidence of insulin resistance, diagnosed with DM through opportunistic oral glucose tolerance testing. He developed symptomatic hyperglycemia with worsening glycemic trend, requiring treatment with high-dose insulin and metformin. After 2.5 years, his glycemic profile normalized following weight loss, and pharmacotherapy was discontinued. Targeted gene testing revealed a de novo novel missense variant in exon 2 of the INS gene (p.His29Tyr), confirmed using bidirectional Sanger sequencing. Insulin resistance in patients with MODY can worsen their clinical course and increase risks of long-term complications. Management of these patients should be individualized. This case highlights the utility of genetic testing in diagnosing uncommon and variable forms of MODY, particularly those with atypical features.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae230"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11663494/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142883742","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

Incidentally Detected Urinary Bladder Paraganglioma. 偶然发现膀胱副神经节瘤。

JCEM case reports Pub Date : 2024-12-19 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae236

Takuya Kitamura, Kazutaka Nanba, Naoki Hayata, Tetsuya Tagami

引用次数: 0