Case Reports in Endocrinology最新文献

De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome. 孤立性Kallmann综合征男孩TCF12剪接位点突变的新生变异

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Case Reports in Endocrinology Pub Date : 2025-07-03 eCollection Date: 2025-01-01 DOI: 10.1155/crie/2350842

Erina Suzuki, Hirohito Shima, Aki Ueda, Kazuhiko Nakabayashi, Keiko Matsubara, Yoko Kuroki, Junko Kanno, Maki Fukami

{"title":"De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome.","authors":"Erina Suzuki, Hirohito Shima, Aki Ueda, Kazuhiko Nakabayashi, Keiko Matsubara, Yoko Kuroki, Junko Kanno, Maki Fukami","doi":"10.1155/crie/2350842","DOIUrl":"10.1155/crie/2350842","url":null,"abstract":"Background: Kallmann syndrome is a rare endocrinopathy characterized by congenital hypogonadotropic hypogonadism (CHH) and olfactory dysfunction. The current understanding of the genetic basis of Kallmann syndrome is fragmentary. TCF12 is a causative gene for autosomal dominant craniosynostosis with various complications. Although recent studies identified rare nucleotide substitutions and indels of TCF12 in a few families with CHH and additional clinical features, the significance of TCF12 variants as the cause of Kallmann syndrome remains uncertain. Case Presentation: A Japanese boy exhibited bilateral cryptorchidism and micropenis at birth. He was otherwise healthy and had normal developmental milestones. At 11 years of age, he showed no pubertal signs. Physical examinations detected no clinical abnormalities except hyposmia. Brain imaging suggested olfactory bulb hypoplasia, but no other anomalies. A gonadotropin-releasing hormone (GnRH) stimulation test yielded low responses of gonadotropins. Whole-exome sequencing (WES) identified a hitherto unreported de novo heterozygous substitution at a splice acceptor site of TCF12 (c.391-1G >A). This variant was predicted to cause a frameshift and resultant premature termination (p.Ser132ProfsTer38) and was assessed as pathogenic, according to the ACMG/AMP 2015 guidelines. The patient carried no rare variants in other genes previously associated with Kallmann syndrome or CHH. Conclusion: These results broaden the mutation spectrum of TCF12. More importantly, this study argues for the etiological relationship between TCF12 variants and isolated Kallmann syndrome.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"2350842"},"PeriodicalIF":0.9,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12245484/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144607503","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

Hyperparathyroidism-Jaw Tumor Syndrome Associated to a CDC73 Gene Pathogenic VARIANT and a Nonossifying Desmoplastic Fibroma of the Mandible. 甲状旁腺功能亢进-下颌肿瘤综合征与CDC73基因致病变异和下颌骨非骨化性纤维组织瘤相关。

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Case Reports in Endocrinology Pub Date : 2025-06-18 eCollection Date: 2025-01-01 DOI: 10.1155/crie/4340464

Castellano Elena, Craparo Andrea, Fabrizia Di Giovanni, Linari Alessandra, Fortunato Mirella, Maffè Antonella

{"title":"Hyperparathyroidism-Jaw Tumor Syndrome Associated to a CDC73 Gene Pathogenic VARIANT and a Nonossifying Desmoplastic Fibroma of the Mandible.","authors":"Castellano Elena, Craparo Andrea, Fabrizia Di Giovanni, Linari Alessandra, Fortunato Mirella, Maffè Antonella","doi":"10.1155/crie/4340464","DOIUrl":"10.1155/crie/4340464","url":null,"abstract":"Most cases of primary hyperparathyroidism (PHPT) are sporadic and are caused by parathyroid adenomas. Hereditary forms may occur in up to 10% of PHPT patients and are more frequent in younger patients. The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is characterized by PHPT in up to 95% of patients and ossifying fibromas in the jaw in 25%-50%. We describe the case of a 35-year-old male from Bangladesh referred to our hospital due to a voluminous right mandibular swelling: a rare nonossifying fibroma of the mandible was diagnosed. Due to functional impotence, a left shoulder magnetic resonance imaging (MRI) was performed with evidence of a pluri-lobulated cyst-like lesion in the proximal humeral area diagnosed as a brown tumor (BT). Subsequent tests highlighted hypercalcemia and hypophosphatemia with high PTH levels. A heterozygous CDC73 pathogenic variant c.96>A p.Trp32Ter was identified. To the best of our knowledge, this is the first reported case of HPT-JT syndrome related to a CDC73 pathogenic variant, associated to a BT of the arm and a rare nonossifying fibroma of the mandible.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"4340464"},"PeriodicalIF":0.9,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12197466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144494749","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

Unexpected Remission of Bilateral Hyperaldosteronism After Unilateral Cortisol-Producing Adenoma Resection: A Report of Two Cases. 单侧产生皮质醇的腺瘤切除后双侧高醛固酮增多症的意外缓解：两例报告。

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Case Reports in Endocrinology Pub Date : 2025-06-18 eCollection Date: 2025-01-01 DOI: 10.1155/crie/9941688

Kazunari Hara, Masanori Murakami, Kumiko Shiba, Kazutaka Tsujimoto, Chikara Komiya, Kenji Ikeda, Kurara Yamamoto, Towako Taguchi, Takumi Akashi, Soichiro Yoshida, Kenichi Ohashi, Yasuhisa Fujii, Tetsuya Yamada

{"title":"Unexpected Remission of Bilateral Hyperaldosteronism After Unilateral Cortisol-Producing Adenoma Resection: A Report of Two Cases.","authors":"Kazunari Hara, Masanori Murakami, Kumiko Shiba, Kazutaka Tsujimoto, Chikara Komiya, Kenji Ikeda, Kurara Yamamoto, Towako Taguchi, Takumi Akashi, Soichiro Yoshida, Kenichi Ohashi, Yasuhisa Fujii, Tetsuya Yamada","doi":"10.1155/crie/9941688","DOIUrl":"10.1155/crie/9941688","url":null,"abstract":"Primary aldosteronism (PA) is the most frequent cause of secondary hypertension. PA is primarily categorized into two subtypes: The unilateral subtype, which mainly consists of aldosterone-producing adenoma (APA) and the bilateral subtype, in which aldosterone is overproduced by both adrenal glands. Rarely, does the bilateral form of PA coexists with a cortisol-producing adenoma (CPA), as documented by previous reports. In this context, we present two cases wherein the preoperative diagnosis identified the bilateral form of PA accompanied by a unilateral CPA. However, postresection of the CPA, unexpected resolution of the bilateral form of PA was observed in both patients. Case 1：A 57-year-old female presented with overt Cushing's syndrome attributed to a left adrenal tumor and concomitant bilateral PA. Laparoscopic left adrenalectomy was performed for the treatment of Cushing's syndrome. Case 2：A 67-year-old female diagnosed with a left adrenal tumor with coexisting bilateral PA. The left adrenal tumor exhibited mild autonomous cortisol secretion (MACS) and given the increase in tumor size, laparoscopic left adrenalectomy was undertaken. After 1 year of surgery, we conducted a captopril challenge test (CCT) on both patients, revealing that neither satisfied the diagnostic criteria for PA. In patients where unilateral CPA coexisted with bilateral PA, unilateral adrenalectomy may provide remission of not only the autonomous cortisol secretion but also bilateral PA. Consequently, postoperative evaluation of PA assumes significance.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"9941688"},"PeriodicalIF":0.9,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12197437/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144494750","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

Severe Late-Onset Abiraterone-Induced Hypokalemia in a Diabetic Patient With Concomitant Adrenal Gland Incidentaloma: A Diagnostic Challenge. 伴肾上腺偶发瘤的糖尿病患者严重迟发性阿比特龙诱导的低钾血症：一个诊断挑战。

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Case Reports in Endocrinology Pub Date : 2025-06-05 eCollection Date: 2025-01-01 DOI: 10.1155/crie/8841993

Andrea Tumminia, Francesco Galeano, Vittorio Oteri, Federica Gambero, Stefania Panebianco, Roberto Baratta, Daniela Leonardi, Ilenia Marturano, Dario Giuffrida, Francesco Frasca, Damiano Gullo

{"title":"Severe Late-Onset Abiraterone-Induced Hypokalemia in a Diabetic Patient With Concomitant Adrenal Gland Incidentaloma: A Diagnostic Challenge.","authors":"Andrea Tumminia, Francesco Galeano, Vittorio Oteri, Federica Gambero, Stefania Panebianco, Roberto Baratta, Daniela Leonardi, Ilenia Marturano, Dario Giuffrida, Francesco Frasca, Damiano Gullo","doi":"10.1155/crie/8841993","DOIUrl":"10.1155/crie/8841993","url":null,"abstract":"Prostate cancer is the most prevalent cancer among men in Western countries and is commonly managed by androgen deprivation therapy for locally advanced or metastatic stages. Even if initially effective, most patients eventually develop resistance to this treatment. Approved in 2011 for castration-resistant prostate cancer, abiraterone acetate inhibits the CYP17A1 enzyme, which is crucial in androgen and cortisol synthesis. This inhibition disrupts feedback on adrenocorticotropic hormone (ACTH), causing mineralocorticoid excess syndrome (MES), which is characterized by fluid retention, hypokalemia, and hypertension. MES can persist even with glucocorticoid supplementation, as observed in some cases. This study describes the case of a 68-year-old male with prostate cancer who developed severe, treatment-resistant hypokalemia after 6 years of abiraterone and prednisone therapy. The patient presented with poorly controlled diabetes and notable hypokalemia despite oral and parenteral potassium supplementation. Imaging revealed an adrenal adenoma; however, low renin and aldosterone levels suggested that abiraterone-induced MES, rather than primary aldosteronism, was responsible for his hypokalemia. The main therapy adjustment consisted of switching prednisone to dexamethasone to enhance ACTH suppression, effectively resolving the patient's hypokalemia. This case underscores the need for MES monitoring in patients on abiraterone, as MES can develop or worsen over time. Physicians should consider dexamethasone over prednisone in persistent MES cases, always monitoring also for the risk of developing Cushing syndrome. Given the rising prostate cancer incidence, clinicians must remain vigilant for MES-related complications with abiraterone, including delayed-onset severe hypokalemia.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"8841993"},"PeriodicalIF":0.9,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12163200/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144301182","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

Successful Management of Extreme Hyperglycemia (134 mmol/L) Secondary to Chronic Pancreatitis Causing Critical Hyperosmolar Coma: A Case Report. 慢性胰腺炎继发致重度高渗性昏迷的极端高血糖（134 mmol/L）的成功治疗1例

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Case Reports in Endocrinology Pub Date : 2025-06-03 eCollection Date: 2025-01-01 DOI: 10.1155/crie/4737440

Arnaud Robert, Sandra Ihirwe Habineza, David Leng, Chloé Dieudonné, Patrick M Honoré, Pierre Bulpa

引用次数: 0

Neoadjuvant Chemotherapy With Selpercatinib for Locally Advanced RET Fusion-Positive Papillary Thyroid Carcinoma: A Case Report. Selpercatinib新辅助化疗治疗局部晚期RET融合阳性甲状腺乳头状癌1例。

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Case Reports in Endocrinology Pub Date : 2025-06-03 eCollection Date: 2025-01-01 DOI: 10.1155/crie/6676471

Mei Kadoya, Katsuhiko Masudo, Hiroyuki Ito, Yoichiro Okubo, Yohei Miyagi, Hiroyuki Hayashi, Hiroyuki Iwasaki

引用次数: 0

Resolution of Sleep Apnea After Radiofrequency Ablation of Goiter. 甲状腺肿射频消融术后睡眠呼吸暂停的缓解。

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Case Reports in Endocrinology Pub Date : 2025-05-05 eCollection Date: 2025-01-01 DOI: 10.1155/crie/6446712

Kamran A Ali, Daniel X Ma, Lindsay M McCullough, James J Herdegen, Sean M Wrenn

{"title":"Resolution of Sleep Apnea After Radiofrequency Ablation of Goiter.","authors":"Kamran A Ali, Daniel X Ma, Lindsay M McCullough, James J Herdegen, Sean M Wrenn","doi":"10.1155/crie/6446712","DOIUrl":"10.1155/crie/6446712","url":null,"abstract":"Background: Obstructive sleep apnea (OSA) and nontoxic multinodular goiter are conditions that often coexist. Treatments of both conditions have evolved over time, but continuous positive airway pressure (CPAP), oral appliances, or surgical therapy are often needed. Radiofrequency ablation (RFA) of the soft palate and base of tongue has been applied as a newer alternative therapy for OSA. RFA is also an increasingly used approach for thyroid nodules and goiter, but previously had no known connection to OSA. Case Presentation: A 59-year-old female with a known history of multinodular goiter and moderate OSA was referred to our endocrine surgery clinic. The goiter was found to have mediastinal extension, documented longitudinal growth of the dominant nodule, cosmetic deformity of the neck, and tracheal deviation. The patient underwent thyroid RFA as nonoperative treatment for her goiter. Within a month of her procedure, she also self-reported a subjective reduction in apneic events and later underwent a formal home sleep study demonstrating an apnea-hypopnea index (AHI) change from 15.8/h at diagnosis to 2.9/h currently, signifying resolution of her OSA. Her treated nodule had 92% volume reduction on 18-month follow-up visit. Conclusion: To our knowledge, this is the first reported case of OSA cured in a patient undergoing RFA for goiter. Goiter-associated sleep apnea remains inadequately described in the literature and warrants further investigations on prevalence and management. Thyroidectomy continues to be the definitive treatment for goiter, with some studies suggesting secondary efficacy for OSA. RFA is now established as a first-line option for symptomatic thyroid nodules, but previously had no described benefit to OSA symptoms. This report illustrates that RFA of thyroid nodules could be offered to patients as both an effective nonsurgical option for goiter as well as a potential cure for their OSA to free them from nightly CPAP usage.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"6446712"},"PeriodicalIF":0.9,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12069844/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143968943","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

Thyroid-Stimulating Hormone-Secreting Pituitary Adenoma: Two Cases With Challenging Diagnosis and Management. 促甲状腺激素分泌型垂体腺瘤：两例诊断与治疗的挑战。

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Case Reports in Endocrinology Pub Date : 2025-04-14 eCollection Date: 2025-01-01 DOI: 10.1155/crie/5103475

Elodie Gruneisen, Juan Andres Rivera

{"title":"Thyroid-Stimulating Hormone-Secreting Pituitary Adenoma: Two Cases With Challenging Diagnosis and Management.","authors":"Elodie Gruneisen, Juan Andres Rivera","doi":"10.1155/crie/5103475","DOIUrl":"https://doi.org/10.1155/crie/5103475","url":null,"abstract":"Background: Thyroid-stimulating hormone (TSH)-secreting pituitary adenomas (TSHomas) are very rare pituitary tumors causing central hyperthyroidism. Most are macroadenomas (≥ 10 mm) with local and systemic comorbidities at diagnosis. The atypical changes in thyroid function tests (TFTs) may be subtle and are often initially missed, while over-secretion of other pituitary hormones is often present. Somatostatin analogs (SSAs) are the recommended first-line medical therapy for these lesions. We report two cases of TSHomas successfully managed with a dopamine agonist (DA) therapy, alone or following transsphenoidal surgery (TSS). Case Presentation: A 47-year-old man presented with significant weight loss, fatigue, and muscle weakness. He was found to have hyperprolactinemia, secondary adrenal insufficiency (AI), and central hypogonadism, which led to the discovery of a 3 cm invasive pituitary adenoma. Additional tests showed an increased IGF1, TSH, and free T4. A Pit-1 multihormonal tumor was documented on pathology after partial resection by TSS. Persistent hyperprolactinemia and central hyperthyroidism responded to DA therapy, as the patient refused therapy. A 66-year-old man with a history of anxiety, hypertension, coronary artery disease, atrial fibrillation, and thyroid nodules, was consulted for severe dizziness and was found to have a 2.4 cm pituitary adenoma on a head CT scan. Lab records showed a progressive supranormal free T4 and TSH increase over the preceding five years. He refused surgery and had an excellent clinical and biochemical response to DA treatment. Conclusion: Prompt detection of central hyperthyroidism by monitoring and correctly interpreting TFT over time is essential for early diagnosis and optimal management of TSHomas. TSH-secreting adenomas may respond to DA therapy.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"5103475"},"PeriodicalIF":0.9,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12011456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143976572","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 Challenging Case of Congenital Adrenal Hyperplasia Due to CYP11B1 Deficiency With Uncontrolled Hypertension. CYP11B1缺乏导致的先天性肾上腺增生伴不受控制的高血压的一个具有挑战性的病例。

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Case Reports in Endocrinology Pub Date : 2025-04-11 eCollection Date: 2025-01-01 DOI: 10.1155/crie/1422782

Pierluigi Mazzeo, Filippo Ceccato, Irene Tizianel, Mattia Barbot

引用次数: 0

Heterozygous Hereditary Vitamin D-Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis. 假关节患者的杂合遗传性维生素d依赖性佝偻病2A型（VDDR2A）

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Case Reports in Endocrinology Pub Date : 2025-04-09 eCollection Date: 2025-01-01 DOI: 10.1155/crie/2434759

Risa Goldberg, Gunjan Umarji, Serge Jabbour

引用次数: 0