JCEM case reports最新文献_第5页

Giant Intracranial Meningiomas Requiring Surgery in 2 Transgender Women Treated With Cyproterone Acetate. 用醋酸环丙孕酮治疗两名变性女性需要手术的巨大颅内脑膜瘤。

JCEM case reports Pub Date : 2024-10-16 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae173

Matthew I Balcerek, Rachel Hovelroud, Matthew Ruhl, Brendan J Nolan

{"title":"Giant Intracranial Meningiomas Requiring Surgery in 2 Transgender Women Treated With Cyproterone Acetate.","authors":"Matthew I Balcerek, Rachel Hovelroud, Matthew Ruhl, Brendan J Nolan","doi":"10.1210/jcemcr/luae173","DOIUrl":"https://doi.org/10.1210/jcemcr/luae173","url":null,"abstract":"Progestin-associated meningioma is a rare complication of cyproterone acetate (CPA), an anti-androgen commonly prescribed in feminizing hormone therapy regimens for transgender and gender-diverse individuals. A dose-response association has been observed, particularly with longer-term exposure to doses ≥ 50 mg daily; however, the dose below which CPA use is safe remains unclear. We herein report the cases of 2 transgender women using CPA who developed meningioma. Novel aspects of our cases include: (i) the presence of symptomatic giant meningiomas (> 5 cm), including multiple meningiomas in one patient, requiring urgent surgical intervention; (ii) meningioma development with both high-dose, long duration and low-dose, shorter duration CPA; and (iii) the presence of a PIK3CA missense variant in one patient, which may play a role in the pathogenesis of progestin-associated meningioma. Our cases highlight the real-world risk of this likely underreported adverse effect and underscore the importance of clinician vigilance for neurological sequelae. We suggest using the lowest dose of CPA that maintains adequate androgen suppression, with consideration of alternative anti-androgens where appropriate.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae173"},"PeriodicalIF":0.0,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11482003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482390","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

Thyrotroph Hyperplasia Caused by Severe Primary Hypothyroidism Leading to Adrenal Crisis. 由严重原发性甲状腺功能减退症引起的甲状腺增生症导致肾上腺危机

JCEM case reports Pub Date : 2024-10-16 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae187

Yasser Hakami, Abdulaziz AlJaman

引用次数: 0

Identification of Lipomatous Metaplasia in a Cortisol-secreting Adrenocortical Adenoma Treated With Mifepristone. 在用米非司酮治疗的皮质醇分泌型肾上腺皮质腺瘤中发现脂肪瘤变。

JCEM case reports Pub Date : 2024-10-07 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae151

Abhinav K Rao, Trang Minh Thi Nguyen, Jenna Brennan Magri, Joseph Wolfgang Mathews

{"title":"Identification of Lipomatous Metaplasia in a Cortisol-secreting Adrenocortical Adenoma Treated With Mifepristone.","authors":"Abhinav K Rao, Trang Minh Thi Nguyen, Jenna Brennan Magri, Joseph Wolfgang Mathews","doi":"10.1210/jcemcr/luae151","DOIUrl":"https://doi.org/10.1210/jcemcr/luae151","url":null,"abstract":"Adrenal adenomas are benign tumors of the adrenal cortex that may secrete excess hormones, such as cortisol. They are most commonly discovered during imaging studies for unrelated problems. Lipomatous metaplasia is a rare degenerative change in adrenal adenomas, characterized by the presence of adipose tissue and hematopoietic elements within the tumor. In this report, we present a case of an adrenal adenoma with lipomatous metaplasia in a patient with hypertension, hyperlipidemia, and type II diabetes mellitus. The discovery of this adrenal mass was prompted by an evaluation of the patient's progressive hirsutism. The tumor was found to be secreting cortisol, leading to Cushing syndrome. The patient subsequently underwent surgical resection of the mass after being treated with mifepristone. The histopathological examination confirmed it to be an adrenal cortical neoplasm with lipomatous metaplasia, characterized by uncertain malignant potential. The patient did well postoperatively. Three months after left adrenalectomy, the patient's hirsutism, A1c, and hypertension improved, allowing a reduction in antihypertensives. Her body mass index stabilized, her triglyceride decreased, and her dehydroepiandrosterone sulfate level normalized. She continued to do well at follow-up visits. Overall, this was a rare case of a functioning adrenal adenoma with lipomatous metaplasia, presenting both diagnostic and therapeutic challenges.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae151"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11456839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395744","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

Short Stature in Klinefelter Syndrome From Aggrecan Mutation. 由 Aggrecan 基因突变导致的 Klinefelter 综合症患者身材矮小

JCEM case reports Pub Date : 2024-10-03 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae170

Antoinette Farrell, Sunitha R Sura

引用次数: 0

Challenging Diagnostic Workup of a 22-year-old Patient With Primary Pigmented Nodular Adrenocortical Disease. 一名 22 岁原发性色素结节性肾上腺皮质病患者的诊断工作面临挑战。

JCEM case reports Pub Date : 2024-10-01 DOI: 10.1210/jcemcr/luae174

Jakob Wernig, Stefan Pilz, Christian Trummer, Verena Theiler-Schwetz, Lisa Maria Schmitt, Oleksiy Tsybrovskyy

{"title":"Challenging Diagnostic Workup of a 22-year-old Patient With Primary Pigmented Nodular Adrenocortical Disease.","authors":"Jakob Wernig, Stefan Pilz, Christian Trummer, Verena Theiler-Schwetz, Lisa Maria Schmitt, Oleksiy Tsybrovskyy","doi":"10.1210/jcemcr/luae174","DOIUrl":"10.1210/jcemcr/luae174","url":null,"abstract":"Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing syndrome (CS), presenting diagnostic challenges due to its rarity and its difficult clinical differentiation from other causes of CS. Here, we report the case of a 22-year-old female who developed classical symptoms of hypercortisolism including progressive weight gain, moon facies, and various skin manifestations. Despite biochemical screening confirming ACTH-independent CS, imaging modalities including computed tomography and magnetic resonance imaging showed normal adrenal gland morphology, complicating the localization of cortisol hypersecretion. Subsequent nuclear imaging methods were not indicative of ectopic cortisol production until adrenal vein sampling (AVS) conclusively identified the adrenal glands as the only possible source of cortisol hypersecretion. Eventually, bilateral adrenalectomy led to a significant improvement in symptoms. Pathological examination confirmed the diagnosis of PPNAD, and genetic testing revealed a mutation in the PRKAR1A gene associated with the Carney complex. This case highlights the importance of considering rare etiologies in hypercortisolism diagnosis and describes their challenging diagnostic workup and the utility of AVS in localizing cortisol hypersecretion in PPNAD patients.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae174"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11443333/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142360735","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

Vitamin D-dependent Rickets Type 1A Mimicking Pseudohypoparathyroidism in Presence of Active Tuberculosis. 活动性肺结核时模仿假性甲状旁腺功能亢进的维生素 D 依赖性 1A 型佝偻病

JCEM case reports Pub Date : 2024-09-30 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae176

Sambit Das, Vishal Agarwal, Binod Prusty, Bijay Ketan Das, Arun Choudhury, Dayanidhi Meher

{"title":"Vitamin D-dependent Rickets Type 1A Mimicking Pseudohypoparathyroidism in Presence of Active Tuberculosis.","authors":"Sambit Das, Vishal Agarwal, Binod Prusty, Bijay Ketan Das, Arun Choudhury, Dayanidhi Meher","doi":"10.1210/jcemcr/luae176","DOIUrl":"10.1210/jcemcr/luae176","url":null,"abstract":"Vitamin D-dependent rickets type 1A is caused by pathogenic variants of CYP27B1 gene, which is inherited in autosomal recessive pattern. These variants lead to defective 1α-hydroxylase enzymatic activity, leading to impaired renal formation of 1,25(OH)2 vitamin D. We report a case of a 16-year-old Asian male patient, with short stature and progressive bone deformity, whose biochemical parameters revealed low levels of 1,25(OH)2 vitamin D, low serum calcium levels, along with high phosphorus and raised levels of intact parathyroid hormone. These biochemical parameters suggested the diagnosis of pseudohypoparathyroidism. The patient also had concurrent extrapulmonary tuberculosis during the time of presentation to our endocrine unit. However, on molecular testing, it was revealed that the patient was harboring pathogenic variants of the CYP27B1 gene, in a compound heterozygous manner, with a novel missense mutation in exon 6 of the CYP27B1 gene, c.1136G > C (p.Arg379Thr), suggesting the diagnosis of vitamin D-dependent rickets type 1A. The cause of high phosphorus at the time of presentation, which led to a diagnostic dilemma of pseudohypoparathyroidism, was later explained by presence of active extra pulmonary tuberculosis. This report describes a case of vitamin D-dependent rickets type 1A, mimicking pseudohypoparathyroidism owing to presence of concurrent illness like extrapulmonary tuberculosis.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae176"},"PeriodicalIF":0.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11439522/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333889","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

Efficacy of Racecadotril in a Patient Affected by a Therapy-Refractory VIPoma and Carcinoid Syndrome. 消旋卡多曲对难治性 VIPoma 和类癌综合征患者的疗效

JCEM case reports Pub Date : 2024-09-30 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae177

Jannes Boesenkoetter, Ina Ellrichmann, Björn Konukiewitz, Mark Ellrichmann, Dominik M Schulte

{"title":"Efficacy of Racecadotril in a Patient Affected by a Therapy-Refractory VIPoma and Carcinoid Syndrome.","authors":"Jannes Boesenkoetter, Ina Ellrichmann, Björn Konukiewitz, Mark Ellrichmann, Dominik M Schulte","doi":"10.1210/jcemcr/luae177","DOIUrl":"10.1210/jcemcr/luae177","url":null,"abstract":"Neuroendocrine neoplasms (NENs) encompass a heterogeneous spectrum of tumors originating from the diffuse neuroendocrine cell system. Approximately 30% of NEN exhibit functional activity with clinical syndromes through hormone-mediated effects. Synchronous and metachronous functioning syndromes, resulting from the simultaneous release of distinct hormones, are exceptionally rare. Of note, hormonal excess syndromes can have a greater effect on patients' morbidity and mortality than the tumor mass itself. We present the case of a 49-year-old male patient affected by an oligo-metastatic ileal NEN, concurrently demonstrating vasointestinal peptide (VIP) and serotonin excretion, complicated by pulmonary tuberculosis. After the first cycle of Lutetium-177-DOTATATE peptide-radio-receptor therapy, the patient developed a severe watery diarrhea, hypokalemia, and achlorhydria (WDHA) syndrome, despite receiving high-dose somatostatin analogues, everolimus, and telotristat ethyl, without any surgical options. The WDHA syndrome necessitated intensive-care-unit (ICU) admission with continual intravenous administration of electrolytes and fluids. With limited alternatives, an off-label intervention using the enkephalinase inhibitor racecadotril was initiated. After 5 days of treatment, the WDHA syndrome exhibited sufficient control, facilitating the patient's discharge from the ICU. This case report underscores racecadotril as an individualized, off-label treatment strategy for patients with severe VIPoma and serotonin-driven WDHA syndrome, where conventional therapeutic avenues have been exhausted.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae177"},"PeriodicalIF":0.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11439523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333883","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

L-Dopa Might Be Insufficient to Suppress Development of Prolactinomas in Dihydropteridine Reductase-Deficiency Patients. 左旋多巴可能不足以抑制二氢蝶啶还原酶缺乏症患者泌乳素瘤的发展

JCEM case reports Pub Date : 2024-09-27 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae172

Unai Diaz-Moreno, Cheng Guang Gan, Divya Pujari, Hoong-Wei Gan, Spyros Batzios

{"title":"L-Dopa Might Be Insufficient to Suppress Development of Prolactinomas in Dihydropteridine Reductase-Deficiency Patients.","authors":"Unai Diaz-Moreno, Cheng Guang Gan, Divya Pujari, Hoong-Wei Gan, Spyros Batzios","doi":"10.1210/jcemcr/luae172","DOIUrl":"https://doi.org/10.1210/jcemcr/luae172","url":null,"abstract":"Dihydropteridine reductase (DHPR) deficiency is a disorder that prevents regeneration of tetrahydrobiopterin (BH4), causing hyperphenylalaninemia (HPA) and low levels of neurotransmitters, including dopamine. Due to low levels of dopamine, patients present with hyperprolactinemia. Treatment consists of a phenylalanine (Phe)-restricted diet, hydroxytryptophan and levodopa (L-Dopa) supplementation, leading to a rapid normalization of prolactin (PRL) levels. We report a case of a patient with DHPR deficiency presenting with new symptomatic hyperprolactinemia and amenorrhea in adolescence despite appropriate management. The prolactinoma was confirmed with pituitary magnetic resonance imaging. The patient was started on cabergoline with rapid normalization of PRL levels and resolution of symptoms, in keeping with previous reports. Cabergoline has a stronger affinity for the D2R receptor and longer half-life than L-Dopa, leading to lactotroph apoptosis, tumor shrinkage, and rapid and maintained normalization of PRL levels, with a better side-effect profile. Patients with DHPR deficiency need to be actively monitored for symptomatic hyperprolactinemia, as L-Dopa monotherapy is insufficient to suppress PRL secretion, leading to lactotroph hypertrophy and proliferation over time and development of prolactinomas in later life.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae172"},"PeriodicalIF":0.0,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11427838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333885","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

Mediastinal Tumor in a Boy With GnRH-Independent Precocious Puberty and Fluctuating β-HCG Levels. 一名伴有 GnRH 依赖性性早熟和 β-HCG 水平波动的男孩的纵隔肿瘤。

JCEM case reports Pub Date : 2024-09-27 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae169

Smadar Shilo, Shirah Amar, Noa Shefer Averbuch, Efraim Rosenbaum, Moshe Phillip, Liora Lazar

{"title":"Mediastinal Tumor in a Boy With GnRH-Independent Precocious Puberty and Fluctuating β-HCG Levels.","authors":"Smadar Shilo, Shirah Amar, Noa Shefer Averbuch, Efraim Rosenbaum, Moshe Phillip, Liora Lazar","doi":"10.1210/jcemcr/luae169","DOIUrl":"https://doi.org/10.1210/jcemcr/luae169","url":null,"abstract":"Gonadotropin-releasing hormone (GnRH(-independent premature puberty in boys, characterized by elevated β-human chorionic gonadotropin (β-hCG) levels, can indicate a secreting germ cell tumor (GCT). These tumors are rare but more common in individuals with Klinefelter syndrome (KS). We present a case of a 7.3-year-old boy with precocious puberty. Physical examination revealed bilateral testicular volumes of 8 to 10 mL and Tanner stage 3 secondary sexual characteristics (genitalia G3, pubic hair P3). His skeletal age was 12 years. Biochemical tests showed suppressed gonadotropin levels, elevated testosterone, and increased β-hCG of 86.6 mIU/mL (86.6 IU/L, reference range: <5 mIU/mL, <5 IU/L). Imaging, including magnetic resonance imaging (MRI), chest x-ray, whole-body computed tomography (CT), and testicular ultrasound, were interpreted as normal except for a small pineal cyst. Karyotype testing confirmed KS. Over 10 months, β-hCG levels fluctuated between 1 to 105 mIU/mL (1-105 IU/L). When β-hCG was 3.6 mIU/mL (3.6 IU/L), a fluorodeoxyglucose positron emission tomography-CT (FDG PET-CT) scan revealed a mediastinal tumor. The tumor was surgically removed and identified as a mature teratoma. This case underscores the importance of karyotype testing and repeated imaging in boys with premature puberty and elevated β-hCG levels, even if β-hCG levels decrease spontaneously and remain low.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae169"},"PeriodicalIF":0.0,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11427817/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333886","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

Fatal Generalized Metastatic Calcifications. 致命的全身转移性钙化

JCEM case reports Pub Date : 2024-09-27 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae168

Friederike Dierkes, Julia Rakusa, Johannes B J Scholte

{"title":"Fatal Generalized Metastatic Calcifications.","authors":"Friederike Dierkes, Julia Rakusa, Johannes B J Scholte","doi":"10.1210/jcemcr/luae168","DOIUrl":"10.1210/jcemcr/luae168","url":null,"abstract":"Metastatic calcifications are a rare but potentially fatal complication of primary hyperparathyroidism (PHPT). In this case, a 76-year-old man with a previously asymptomatic PHPT developed a hypercalcemic crisis with severe pancreatitis following elective urologic surgery. Despite initial treatment focused on pancreatitis and subsequent organ failure, hypercalcemia persisted, leading to rapid progressive metastatic calcifications in multiple organs. Parathyroidectomy during ongoing pancreatitis successfully reduced calcium levels but not the calcifications. After 4 months of complications and persistent pain, the patient declined further treatment and ultimately succumbed to the disease. The current literature primarily reports single-organ metastatic calcifications due to PHPT. This case represents the only lethal case of systemic metastatic calcifications in the current century. Physicians should be aware of the potential deterioration of hypercalcemia following elective surgery, particularly in the context of renal impairment. Rapid correction of calcium levels may prevent severe complications such as fatal metastatic calcifications.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae168"},"PeriodicalIF":0.0,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11427824/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333884","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