Journal of Clinical and Translational Endocrinology: Case Reports最新文献

英文中文

Malnutrition modulated diabetes mellitus in a toddler in resource limited setting: A case report

Q4 Medicine

Journal of Clinical and Translational Endocrinology: Case Reports

Pub Date : 2025-02-18 DOI: 10.1016/j.jecr.2025.100183

Hindeya Hailu Hagos , Yemane Leake Gebremichael , Birhanu Kassie Reta , Gebreyesus Elfu Mezgebe , Tariku Yigremachew Gossaye , Teklit Gebremedhin Tekulu , Tiegist Bahta Woldu

Introduction

In 1985, World Health Organization had introduced new classification called Malnutrition related diabetes mellitus which later changed to malnutrition modulated diabetes mellitus and then deleted in subsequent classifications. It has distinct clinical features and severity. However, the condition still exists particularly in resource limited countries like Ethiopia. The objective of this case report is to emphasis an unusual case of a severely malnourished, hyperglycemic, and ketone-resistant toddler with a history and signs of severe acute malnutrition, which is resistant to standard therapeutic feeding, later diagnosed as malnutrition-modulated diabetes mellitus.

Presentation of case

A 2-year- and 10-month-old, internally displaced female toddler, brought by her mother with the complaint of excessive urination, eating, and drinking, and associated with significant weight loss of three weeks duration. She was admitted at Semema Primary Hospital, Tigray, northern Ethiopia, with the diagnosis of malnutrition-modulated diabetes mellitus (MMDM). On examination, she had visible severe wasting (bone and skin appearance). Anthropometric measurement indicated underweight, severe wasting (MUAC 7 cm, WFH below −3 WHO Z score), and moderately stunted. She had hyperglycemia (>600 mg/dl) and glycosuria but no ketonuria. Prior to the diagnosis of MMDM, she was repeatedly admitted (4 times) with the diagnosis of complicated severe acute malnutrition (SAM) and treated in inpatient and outpatient therapeutic feeding units according to national guidelines of Ethiopia. However, she was a non-responder. She was started on insulin treatment along with the therapeutic milk after five months of diagnosis of diabetes mellitus was made. Moreover, she had progressive weight gain on insulin therapy. Nonetheless, the demand for insulin to control hyperglycemia remains high (up to 3.6 IU/kg/day) until her discharge and subsequent follow-ups.

Conclusion

There shall be a high index of suspecting malnutrition-modulated diabetes mellitus in resource-limited countries with high prevalence of severe acute malnutrition for early management and better outcome.

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引用次数: 0

A pediatric case of hepatitis A (genotype IIIA) with biliary stasis-type liver dysfunction and dyslipidemia

Q4 Medicine

Journal of Clinical and Translational Endocrinology: Case Reports

Pub Date : 2025-02-17 DOI: 10.1016/j.jecr.2025.100184

Kosuke Oikawa , Motohiro Taki , Takaaki Takayanagi , Shunseki Koyama , Shinji Asayama , Hiroyuki Satoh

Hepatitis A is fecally transmitted through water or food contaminated with the virus. Owing to improved sanitary conditions, the number of reported cases in Japan has decreased, and imported cases are more common. Hepatitis A rarely causes biliary stasis; it has been reported in adults, but not in children. In viral hepatitis, cholesterol levels are often low owing to impaired liver function. Here, we report a pediatric case of hepatitis A with biliary stasis and lipid abnormalities. The patient was a 9-year-old Indian boy living in Japan. He travelled to India and played in a river. Two months after returning to Japan, his parents noticed yellowing of the eyes and brownish urine. Laboratory results showed biliary stasis-type liver dysfunction (aspartate transaminase, 153 IU/L, alanine transaminase, 714 IU/L, γ-glutamyl transaminase, 221 IU/L) and hyperlipidemia (triglycerides 252 mg/dL, LDL cholesterol 248 mg/dL, HDL cholesterol 12 mg/dL). Polymerase chain reaction testing for ribonucleic acid of hepatitis A virus revealed a diagnosis of hepatitis A (genotype IIIA). Treatment consisted of bed rest and intravenous infusion, and the patient's hematological abnormalities resolved spontaneously.

{"title":"A pediatric case of hepatitis A (genotype IIIA) with biliary stasis-type liver dysfunction and dyslipidemia","authors":"Kosuke Oikawa , Motohiro Taki , Takaaki Takayanagi , Shunseki Koyama , Shinji Asayama , Hiroyuki Satoh","doi":"10.1016/j.jecr.2025.100184","DOIUrl":"10.1016/j.jecr.2025.100184","url":null,"abstract":"<div><div>Hepatitis A is fecally transmitted through water or food contaminated with the virus. Owing to improved sanitary conditions, the number of reported cases in Japan has decreased, and imported cases are more common. Hepatitis A rarely causes biliary stasis; it has been reported in adults, but not in children. In viral hepatitis, cholesterol levels are often low owing to impaired liver function. Here, we report a pediatric case of hepatitis A with biliary stasis and lipid abnormalities. The patient was a 9-year-old Indian boy living in Japan. He travelled to India and played in a river. Two months after returning to Japan, his parents noticed yellowing of the eyes and brownish urine. Laboratory results showed biliary stasis-type liver dysfunction (aspartate transaminase, 153 IU/L, alanine transaminase, 714 IU/L, γ-glutamyl transaminase, 221 IU/L) and hyperlipidemia (triglycerides 252 mg/dL, LDL cholesterol 248 mg/dL, HDL cholesterol 12 mg/dL). Polymerase chain reaction testing for ribonucleic acid of hepatitis A virus revealed a diagnosis of hepatitis A (genotype IIIA). Treatment consisted of bed rest and intravenous infusion, and the patient's hematological abnormalities resolved spontaneously.</div></div>","PeriodicalId":56186,"journal":{"name":"Journal of Clinical and Translational Endocrinology: Case Reports","volume":"36 ","pages":"Article 100184"},"PeriodicalIF":0.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143437963","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 metachronous pituitary germinoma and testicular seminoma: The role of tumor markers in diagnosis and the influence of glucocorticoids on disease progression

Q4 Medicine

Journal of Clinical and Translational Endocrinology: Case Reports

Pub Date : 2025-02-06 DOI: 10.1016/j.jecr.2025.100182

Rachel Sheskier , Parisa Verma , Alexander Kirschenbaum , Bella Orelowitz , Melissa Umphlett , Umar Sharif , John Sfakianos , Leslie Schlachter , Joshua Bederson , Alice C. Levine

The presence of both an extragonadal germ cell tumor and gonadal germ cell tumor is a rare occurrence with few cases reported in the literature. We herein report a case of a young man presenting with hypophysitis due to a pituitary germinoma. After a course of high dose glucocorticoid (GC) therapy and the surgical removal of the germinoma, a testicular seminoma was discovered, an apparently second distinct primary germ cell tumor. Hypophysitis was initially attributed to lymphocytic hypophysitis due to the largely unrevealing secondary work up that included beta-human chorionic gonadotropin (b-hCG) and alpha fetoprotein (AFP), which highlights the pitfalls of relying on the tumor marker of b-hCG in both germinomas and seminomas and the important role of biopsy for definitive diagnosis of hypophysitis etiology. Furthermore, the presentation of the seminoma following a course of high dose GC indicates that immunosuppressive therapies may promote the growth of these germ cell tumors.

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引用次数: 0

A case report of hypogonadism and infertility in 46,XX (SRY positive) male syndrome

Q4 Medicine

Journal of Clinical and Translational Endocrinology: Case Reports

Pub Date : 2024-12-12 DOI: 10.1016/j.jecr.2024.100181

Benjamin Rosenstein, Hassan Liaqat, Anees Fazili

46, XX Male Syndrome is a rare genetic condition in which an individual has a male phenotype despite having a 46, XX karyotype. This is most often due to a translocation of the SRY gene from the short arm of the Y-chromosome onto the X chromosomes during paternal meiosis. Due to the absence of the long arm of the Y-chromosome, there is a de facto deletion of AZF regions a-c, and this results in infertility. We present a case of a 35-year-old male who was diagnosed with 46,XX (SRY+) Male Syndrome upon work-up for infertility and hypogonadism.

引用次数: 0

Severe hepatopulmonary syndrome with end-stage liver cirrhosis associated with pan-hypopituitarism in a pediatric patient

Q4 Medicine

Journal of Clinical and Translational Endocrinology: Case Reports

Pub Date : 2024-11-28 DOI: 10.1016/j.jecr.2024.100179

Shawn A. Haupt , Jessica C. Chang , Roya Zarpak , Arash R. Zandieh , Nada A. Yazigi , Udeme D. Ekong , Juan F. Guerra , Thomas M. Fishbein , Cal S. Matsumoto , Alexander H. Kroemer , Khalid M. Khan

Cholestasis in the neonatal period requires a prompt and thorough evaluation. Panhypopituitarism is an uncommon but known cause of cholestasis. Here we present a rare and late complication of liver disease secondary to congenital hypopituitarism. Pediatric patients presenting with cholestasis and other manifestations of pituitary malfunction warrant further evaluation.

引用次数: 0

A case of bone pain following kidney transplant: Differentiating between tertiary hyperparathyroidism and calcineurin-induced pain syndrome in post renal transplant patients

Q4 Medicine

Journal of Clinical and Translational Endocrinology: Case Reports

Pub Date : 2024-11-14 DOI: 10.1016/j.jecr.2024.100178

Julie Fedorko , Caroline Poku

Metabolic derangements affecting bone health are undeniably common among patients who have undergone renal transplants. Due to long-standing chronic kidney disease (CKD), secondary hyperparathyroidism (SHPT) and tertiary hyperparathyroidism (THPT) are frequently observed in renal transplant patients and account for the bone disorders associated with this patient population, termed chronic kidney disease-mineral and bone disorders (CKD-MBD). As calcineurin inhibitors become increasingly commonplace in the long-term management of graft rejection, another process must be considered when working up a patient's bone pain. Calcineurin inhibitor-induced pain syndrome (CIPS) is a condition of episodic bone and articular pain that can present similarly to THPT with the presence of hypercalcemia, hyperphosphatemia and elevated alkaline phosphatase. However, CIPS can be distinguished from these other processes through its distinct imaging findings, with bone marrow and soft tissue edema on MRI and increased radiotracer uptake on bone scans. Here, we present a case of bone pain in a patient following renal transplant and the subsequent workup performed to identify the underlying process. As more and more patients undergo renal transplant and begin immunosuppression with calcineurin inhibitors, there is an increasing need for a thorough workup of bone pain and high clinical suspicion of CIPS. Furthermore, the debilitating pain associated with CIPS can be improved with reduction in immunosuppressive dosing; thus, having a high clinical suspicion for this condition can make a significant impact on patient quality of life as well as medical management of graft rejection immunosuppression.

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引用次数: 0

Management of “hyperandrogenism” confounded by dermatology biotin prescriptions 皮肤科生物素处方对 "雄激素过多症 "的管理造成混乱

Q4 Medicine

Journal of Clinical and Translational Endocrinology: Case Reports

Pub Date : 2024-09-25 DOI: 10.1016/j.jecr.2024.100177

Sumal S. Sundar, Srushti Shankar, Madhumati S. Vaishnav, Leena Lekkala, Chandraprabha Siddalingappa, Kavitha Muniraj, Thummala Kamala, Reshma B. Vijay, Vasanthi Nath, Mandyam D. Chitra, Pushpa Ravikumar, Siddartha Dinesha, Tejeswini Deepak, Sathyanarayana Srikanta

Immunoassay interferences, including those from exogenous substances like biotin, can lead to misinterpretation of laboratory results and clinical decision-making challenges. A 28-year-old unmarried female presented to dermatologist with 4-year history of acne, hirsutism, and hair loss. Hormonal assays using chemiluminescence immunoassays (CLIA) and enzyme-linked immunosorbent assays (ELISA) revealed alarmingly high testosterone levels, suggesting neoplastic androgen excess and severe insulin resistance. This prompted referral to endocrinology for further evaluation. Patient's menarche occurred at age 11, with regular menstrual cycles. Family history indicated diabetes and hirsutism, but not infertility. Physical examination revealed body mass index (BMI) of 21.8 kg/m² and Ferriman-Gallwey score of 11. Despite severe biochemical hyperandrogenism, her clinical presentation was mild. Differential diagnoses included polycystic ovary syndrome (PCOS) and late-onset congenital adrenal hyperplasia (CAH). Repeat hormonal testing, performed at multiple laboratories using liquid chromatography-mass spectrometry (LCMS), CLIA, and ELISA, showed normal testosterone, free testosterone, and insulin levels, suggesting that the initial results were falsely elevated. Review of her dermatology prescriptions revealed that she had taken a single 10 mg tablet of biotin 33 hours before first blood draw, leading to diagnosis of biotin interference in immunoassays. After the two-week biotin washout period, her subsequent endocrinology work-up had indicated “normalized” hormonal levels. Pelvic and abdominal ultrasound imaging revealed normal ovaries and adrenal areas. Thus, biotin associated testosterone (and insulin) immunoassay interference can confound clinical diagnosis and management. Any observed discordance between clinical symptoms, signs and hormonal levels should raise possibility of immunoassay interferences, reemphasizing need for heightened physician awareness.

免疫测定干扰，包括生物素等外源性物质的干扰，会导致对实验室结果的误读和临床决策的困难。一名 28 岁的未婚女性因 4 年的痤疮、多毛症和脱发病史到皮肤科就诊。使用化学发光免疫分析法（CLIA）和酶联免疫吸附分析法（ELISA）进行激素检测，发现睾酮水平高得惊人，提示肿瘤性雄激素过多和严重的胰岛素抵抗。这促使她转到内分泌科做进一步评估。患者 11 岁初潮，月经周期规律。家族史显示其患有糖尿病和多毛症，但没有不孕症。体格检查显示，患者的体重指数（BMI）为 21.8 kg/m2，费里曼-高尔维评分为 11 分。尽管她患有严重的生化高雄激素症，但临床表现却很轻微。鉴别诊断包括多囊卵巢综合征（PCOS）和晚发先天性肾上腺皮质增生症（CAH）。在多个实验室使用液相色谱-质谱联用仪（LCMS）、CLIA 和 ELISA 进行的重复激素检测显示，睾酮、游离睾酮和胰岛素水平正常，表明最初的结果是假性升高。查看她的皮肤科处方后发现，她在第一次抽血前 33 小时服用了一片 10 毫克的生物素片剂，因此诊断为生物素干扰了免疫测定。经过两周的生物素缓冲期后，她随后的内分泌检查显示激素水平 "恢复正常"。盆腔和腹部超声波成像显示卵巢和肾上腺区域正常。因此，与生物素相关的睾酮（和胰岛素）免疫测定干扰会给临床诊断和管理带来困惑。临床症状、体征和激素水平之间的任何不一致都应引起免疫测定干扰的可能性，这再次强调了提高医生认识的必要性。

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引用次数: 0

“Incidental” lipoadenoma of the parathyroid gland: A case report of a rare entity 甲状旁腺 "偶发 "脂肪腺瘤：罕见病例报告

Q4 Medicine

Journal of Clinical and Translational Endocrinology: Case Reports

Pub Date : 2024-08-13 DOI: 10.1016/j.jecr.2024.100176

Francesca Signorini , Marco Puccini , Gabriele Materazzi , Clara Ugolini

Parathyroid lipoadenoma is an uncommon type of parathyroid adenoma and a rare cause of primary hyperparathyroidism (PHPT). The rarity of this entity, the difficult detection on imaging and the resemblance with normal parathyroid tissue microscopically makes its diagnosis difficult. We reported the case of an asymptomatic 48-year-old male treated for amiodarone-induced thyrotoxicosis and incidental sporadic PHPT, that supplements and supports the rare literature data concerning the knowledge, diagnosis, and treatment of parathyroid lipoadenoma.

甲状旁腺脂肪腺瘤是一种不常见的甲状旁腺腺瘤，也是原发性甲状旁腺功能亢进症（PHPT）的罕见病因。由于其罕见性、影像学上的难以发现性以及显微镜下与正常甲状旁腺组织的相似性，使得其诊断非常困难。我们报告了一例因胺碘酮诱发甲状腺毒症和偶发散发性PHPT而接受治疗的48岁无症状男性病例，该病例补充并支持了有关甲状旁腺脂肪腺瘤的知识、诊断和治疗的罕见文献数据。

引用次数: 0

Papillary carcinoma arising in a thyroglossal duct cyst: A case report 甲状舌管囊肿引发的乳头状癌：病例报告

Q4 Medicine

Journal of Clinical and Translational Endocrinology: Case Reports

Pub Date : 2024-06-27 DOI: 10.1016/j.jecr.2024.100175

Desalegn Fekadu , Bereket Girum , Gemechis Asefa , Abdi Alemayehu , Michael Tekelhaimanot

Thyroglossal duct cysts are one of the most common causes of anterior neck swelling. Thyroglossal duct carcinoma arising from these cysts is quite rare; it occurs in less than 1 % of all the thyroglossal duct cysts. Imaging plays a crucial role in evaluating these lesions and suggesting further pathologic workup in suspicious cases. We report a case of a 30-year-old woman with a diagnosis of papillary carcinoma within the thyroglossal duct cyst.

甲状舌管囊肿是导致颈前肿胀的最常见原因之一。由这些囊肿引发的甲状舌管癌非常罕见，发生率不到甲状舌管囊肿总数的 1%。影像学检查在评估这些病变和建议可疑病例做进一步病理检查方面起着至关重要的作用。我们报告了一例 30 岁女性甲状舌管囊肿内乳头状癌的诊断病例。

引用次数: 0

Tumor shrinkage in a tamoxifen-treated non-functioning pituitary neuroendocrine tumor with positive estrogen receptor-beta (ERβ): A case report and review of the literature 经他莫昔芬治疗的雌激素受体-β（ERβ）阳性无功能垂体神经内分泌瘤的肿瘤缩小：病例报告和文献综述

Q4 Medicine

Journal of Clinical and Translational Endocrinology: Case Reports

Pub Date : 2024-06-27 DOI: 10.1016/j.jecr.2024.100174

Haydar Ali Tajuddin Amalina , Sukor Norlela , Azizan Elena Aisha , Kamaruddin Nor Azmi , Omar Ahmad Marzuki , Geok Chin Tan , Mustangin Muaatamarulain , Mohamed Mukari Shahizon Azura , Alias Azmi , Abd Latif Kartikasalwah , Poh Sen Tay , Idris Nurdillah , Kasim Fauziah , Wan Ismail Wan Ruza Iswati

Administration of selective estrogen receptor modulators (SERMs) and anti-estrogens has been shown to reduce the size of pituitary tumors. However, previous studies were performed on animal pituitary tumors or tissue cultures. We administered oral tamoxifen to a postoperative patient with a nonfunctioning pituitary neuroendocrine tumor (NF-PitNET) to investigate its potential effect on tumor volume. This case report presents the case of a 47-year-old female patient with a null cell adenoma who had undergone surgical resection as primary treatment and was left with a residual tumor that grew significantly. She was treated with tamoxifen 20–40 mg daily for one year. She was followed up to assess tamoxifen adherence, tolerability, and adverse events. The resected pituitary tumor was stained with estrogen receptor alpha (ERα) and beta (ERβ), proliferation markers (ki-67 and p53), and H&E staining for mitotic count. MRI of the pituitary gland was performed before starting treatment, after 6 months, and after 1 year of tamoxifen therapy. Her resected tumor showed high-intensity ERβ staining in the absence of ERα expression. She was able to tolerate oral tamoxifen therapy without side effects. Tamoxifen therapy resulted in a remarkable reduction in residual tumor volume of up to 87 % in this patient. Tamoxifen has a potential therapeutic effect in treating patients with residual NF-PitNET tumors that have regrown after primary resection. This finding may provide an alternative treatment modality for recurrent NF-PitNET. ERβ expression may predict response to tamoxifen in this subset of patients.

研究表明，服用选择性雌激素受体调节剂（SERMs）和抗雌激素可缩小垂体瘤的体积。然而，以前的研究都是在动物垂体瘤或组织培养物上进行的。我们对一名无功能垂体神经内分泌肿瘤（NF-PitNET）术后患者口服他莫昔芬，以研究其对肿瘤体积的潜在影响。本病例报告介绍了一名 47 岁女性患者的病例，她患有无细胞腺瘤，接受了手术切除作为原发性治疗，术后残留的肿瘤明显增大。她接受了每天 20-40 毫克的他莫昔芬治疗，为期一年。对她进行了随访，以评估他莫昔芬的依从性、耐受性和不良反应。切除的垂体瘤进行了雌激素受体α（ERα）和β（ERβ）染色、增殖标记物（ki-67和p53）染色和有丝分裂计数的H&E染色。在开始治疗前、他莫昔芬治疗 6 个月后和 1 年后，对垂体进行了 MRI 检查。她切除的肿瘤显示高强度ERβ染色，而无ERα表达。她能够耐受口服他莫昔芬治疗，且无副作用。他莫昔芬治疗使该患者的残余肿瘤体积明显缩小，缩小率高达87%。他莫昔芬在治疗原发性切除术后重新生长的残留 NF-PitNET 肿瘤患者方面具有潜在的治疗效果。这一发现可能为复发性NF-PitNET提供了另一种治疗方式。ERβ的表达可预测这部分患者对他莫昔芬的反应。

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