JCEM case reports最新文献_第5页

An Interesting Case of Vitamin D-Mediated Severe Hypercalcemia in a Patient With Renal Mass. 肾肿块患者发生维生素d介导的严重高钙血症的有趣病例。

JCEM case reports Pub Date : 2025-01-17 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae233

Aravind L, Arun Viswanath S, Ninoo George G, Ranjit Jeyasekharan, Deepak David, Jerin J Ovett

引用次数: 0

Diagnosing Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome and a Novel GATA3 Variant. 诊断甲状旁腺功能减退、感音神经性耳聋和肾发育不良综合征和一种新的GATA3变异。

JCEM case reports Pub Date : 2025-01-16 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae246

Anisley Valenciaga, Pamela Brock, Benjamin O'Donnell, Steven W Ing

{"title":"Diagnosing Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome and a Novel GATA3 Variant.","authors":"Anisley Valenciaga, Pamela Brock, Benjamin O'Donnell, Steven W Ing","doi":"10.1210/jcemcr/luae246","DOIUrl":"10.1210/jcemcr/luae246","url":null,"abstract":"Hypoparathyroidism (hypoPTH), sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant condition with approximately 200 cases published. HDR syndrome is caused by variants of GATA binding protein 3 gene (GATA3), which encodes a transcription factor, with multiple types of GATA3 variants reported. We present the case of a 76-year-old woman who was diagnosed with hypoPTH when she was aged 40 years and transferred care to our institution. Further history elucidated presence of deafness at age 1 year and chronic kidney disease with a left atrophic kidney diagnosed in her 60 seconds. Genetic testing identified a novel GATA3 missense variant of unknown significance (c.791G > A, p.Cys264Tyr). There was no family history of hypoPTH, deafness, or renal disease, which might indicate incomplete penetrance or de novo mutation. Advanced modeling of protein sequence and biophysical properties predicts abnormal protein function, suggesting possible pathogenicity. In addition, a likely pathogenic variant in the same amino acid was previously described in a patient with HDR, supporting the in silico prediction of pathogenicity in our patient's variant. Syndromic hypoPTH should be considered in patients even if presenting later in life with presumed chronic isolated conditions. Genetic testing can guide further disease screening and family testing when appropriate.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae246"},"PeriodicalIF":0.0,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11735463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143017780","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

Congenital Hypogonadotropic Hypogonadism With Novel Pathogenic Variants in FGFR1 and GNRHR. 先天性促性腺功能低下与FGFR1和GNRHR的新致病变异。

JCEM case reports Pub Date : 2025-01-15 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae254

Shinta Yamamoto, Hanako Nakajima, Hiroshi Okada, Naoko Nakanishi, Masahide Hamaguchi, Michiaki Fukui

引用次数: 0

Ectopic Thyrotropin-Secreting Tumor in the Nasopharynx Causing Central Hyperthyroidism. 鼻咽部异位促甲状腺素分泌肿瘤引起中枢性甲状腺功能亢进。

JCEM case reports Pub Date : 2025-01-15 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae250

Maria Phylactou, Luke Dixon, Catherine Rennie, Thang Han, Jyotsana Gaur, Niamh M Martin

{"title":"Ectopic Thyrotropin-Secreting Tumor in the Nasopharynx Causing Central Hyperthyroidism.","authors":"Maria Phylactou, Luke Dixon, Catherine Rennie, Thang Han, Jyotsana Gaur, Niamh M Martin","doi":"10.1210/jcemcr/luae250","DOIUrl":"10.1210/jcemcr/luae250","url":null,"abstract":"We report a 31-year-old man with diarrhea and tachycardia. Diagnostic workup confirmed raised free thyroid hormones with unsuppressed thyroid stimulating hormone (TSH). Laboratory assay and medication interference were excluded. Consistent with a high glycoprotein hormone α-subunit (α-GSU), the α-GSU:TSH molar ratio was increased. However, anterior pituitary panel testing also confirmed an isolated, raised follicle stimulating hormone (FSH) (17.3 IU/L; reference range, 1.7-8.0). Therefore, interpretation of α-GSU was limited given the co-existent elevated FSH. There was no pituitary lesion on magnetic resonance imaging (MRI) and stimulated TSH was 232% of baseline levels following thyrotropin-releasing hormone (TRH) stimulation, making a diagnosis of TSH-oma less likely. Genetic analysis revealed no pathogenic variants in the thyroid hormone receptor β gene. Due to the persistently elevated FSH, a follow-up pituitary MRI was arranged, which identified a nasopharyngeal mass on the floor of the sphenoid sinus, raising the possibility of ectopic pituitary tissue. The patient underwent endoscopic resection of this lesion, with subsequent normalization of free T4, TSH, and FSH within a few weeks. Histology confirmed a plurihormonal pituitary adenoma with staining for TSH, growth hormone, luteinizing hormone, and FSH. This case highlights the biochemical and radiological challenges of diagnosing ectopic TSH-secreting pituitary tumors.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae250"},"PeriodicalIF":0.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11733770/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143017781","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

Postprandial Hypoglycemia in a Patient With Clinical Beckwith-Wiedemann Syndrome. 临床贝克维-维德曼综合征患者的餐后低血糖症。

JCEM case reports Pub Date : 2025-01-10 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae249

Bella London, Lisa Chiu Corker, Lily Deng, Bhavapriya Mani, Alison Murray, Mansa Krishnamurthy

{"title":"Postprandial Hypoglycemia in a Patient With Clinical Beckwith-Wiedemann Syndrome.","authors":"Bella London, Lisa Chiu Corker, Lily Deng, Bhavapriya Mani, Alison Murray, Mansa Krishnamurthy","doi":"10.1210/jcemcr/luae249","DOIUrl":"10.1210/jcemcr/luae249","url":null,"abstract":"A male neonate exhibited hallmark features of Beckwith-Wiedemann syndrome (BWS) including large for gestational age, macroglossia, multiple ear pits, and umbilical hernia. He had neonatal hypoglycemia, requiring a glucose infusion rate of 9.7 mg/kg/min. Over time, he demonstrated persistent hypoglycemia with point-of-care glucose <60 mg/dL (<3.3 mmol/L) (70-140 mg/dL, 3.9-7.8 mmol/L) prompting a critical sample. A diagnostic fast of 13 hours revealed no hypoglycemia <50 mg/dL. However, he was found to have postprandial hypoglycemia after 2 hours to 58 mg/dL (3.2 mmol/L) (70-140 mg/dL, 3.9-7.8 mmol/L) with low β-hydroxybutyrate of <1.8 mg/dL (<0.17 mmol/L) (>3.6 mg/dL, >1.8 mmol/L) and increased insulin 3.9 μIU/mL (27 pmol/L) (2-13 μIU/mL; 14-90 pmol/L). Low-dose diazoxide (6 mg/kg/day) and chlorothiazide (10 mg/kg/day) were initiated. After 48 hours on diazoxide, all episodes of postprandial hypoglycemia resolved. A safety fast on diazoxide sustained blood glucose >70 mg/dL with a rise in serum β-hydroxybutyrate at 13 and 19 hours. Our case highlights the heterogeneity of hypoglycemia in BWS, either fasting or postprandial. This emphasizes the importance of appropriate screening for both forms of hypoglycemia in patients with BWS and that diazoxide is an effective treatment.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae249"},"PeriodicalIF":0.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11720178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973682","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

Insulinoma With Ambiguous Biochemistry, Positive ⁶⁸Ga-DOTA-Exendin-4 PET-CT, and Effective Endoscopic Ablation. 胰岛素瘤，生化不明确，68Ga-DOTA-Exendin-4 PET-CT阳性，内镜下有效消融。

JCEM case reports Pub Date : 2025-01-09 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae232

Fernando Jia Jing Loo, Melvin Kok Seng Lee, Hian Liang Huang, Charles Kien Fong Vu, Yin Chian Kon

{"title":"Insulinoma With Ambiguous Biochemistry, Positive 68Ga-DOTA-Exendin-4 PET-CT, and Effective Endoscopic Ablation.","authors":"Fernando Jia Jing Loo, Melvin Kok Seng Lee, Hian Liang Huang, Charles Kien Fong Vu, Yin Chian Kon","doi":"10.1210/jcemcr/luae232","DOIUrl":"10.1210/jcemcr/luae232","url":null,"abstract":"A 75-year-old female presented with fasting hypoglycemic episodes. A supervised fast ended at 72 hours fulfilling Whipple triad, with suppressed insulin and C-peptide levels, but discordantly suppressed serum β-hydroxybutyrate levels. After 21 months of recurring symptoms, a repeat fast ended at 48 hours with Whipple triad, suppressed serum β-hydroxybutyrate level, and borderline nonsuppressed C-peptide level, suggesting endogenous hyperinsulinism. Serum insulin levels were discordantly suppressed. Computed tomography (CT) of the abdomen demonstrated an enhancing 1.36 × 0.93-cm nodule in the head of the pancreas. Endoscopic ultrasound (EUS)-guided fine-needle aspirate of the lesion derived cytology consistent with a neuroendocrine tumor, but fine-needle core biopsy returned normal pancreatic tissue. Because the results were equivocal, functional imaging with 68Gallium-DOTA-exendin-4 positron emission tomography CT was performed, which confirmed the diagnosis of a single head-of-pancreas insulinoma. The patient declined surgical resection. Oral diazoxide therapy resulted in significant peripheral edema. Hence, EUS-guided radiofrequency ablation of the lesion was performed, and the patient remains symptom free 10 months postprocedure. This case illustrates that (1) exendin-4-based positron emission tomography may help one confidently diagnose and localize insulinoma when prior biochemical or endoscopic biopsy results are ambiguous; and (2) EUS-guided radiofrequency ablation is an efficacious alternative option to surgical resection in the frail, elderly patient with insulinoma.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae232"},"PeriodicalIF":0.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142959914","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

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

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

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