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Adrenal Crisis Induced by Zoledronic Acid in Two Patients With Hypopituitarism: A Case Report and Literature Review. 唑来膦酸致垂体功能减退2例肾上腺危机1例报告并文献复习。
IF 0.8
Case Reports in Endocrinology Pub Date : 2026-01-08 eCollection Date: 2026-01-01 DOI: 10.1155/crie/8854575
Abrar Mohammed AlFaifi, Wael Mohammad AlMistehi
{"title":"Adrenal Crisis Induced by Zoledronic Acid in Two Patients With Hypopituitarism: A Case Report and Literature Review.","authors":"Abrar Mohammed AlFaifi, Wael Mohammad AlMistehi","doi":"10.1155/crie/8854575","DOIUrl":"10.1155/crie/8854575","url":null,"abstract":"<p><p>Adrenal insufficiency (AI) is characterized by inadequate steroid hormone production and is frequently a consequence of hypopituitarism, which is also associated with increased risk of osteoporosis due to deficiencies in growth hormone, gonadotropins, and other pituitary hormones. Zoledronic acid (ZA), a widely used bisphosphonate, is associated with acute phase reaction (APR) that may trigger adrenal crisis in susceptible individuals. We describe two patients with hypopituitarism and osteoporosis who developed adrenal crisis shortly after their first ZA infusion, despite stable physiological steroid replacement and acetaminophen prophylaxis. One presented with hypotension and shock within 24 h, the other with hypotension, severe hyponatremia, and seizures at 48 h. Both recovered after high-dose glucocorticoids and were later switched to denosumab without complications. These cases highlight the potential for adrenal crisis in patients with central AI receiving ZA and suggest that standard prophylaxis may be insufficient. Alternative therapies and enhanced precautions may be warranted in this vulnerable population.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2026 ","pages":"8854575"},"PeriodicalIF":0.8,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12780544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145951377","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
Primary Hyperparathyroidism From Concurrent Parathyroid Hyperplasia and Ectopic Parathyroid Adenoma: A Case Report. 原发性甲状旁腺功能亢进并发甲状旁腺增生和异位甲状旁腺瘤1例报告。
IF 0.8
Case Reports in Endocrinology Pub Date : 2026-01-06 eCollection Date: 2026-01-01 DOI: 10.1155/crie/2316653
June Yao, Clarice Szeto, Chantal Riba, Chau Nguyen
{"title":"Primary Hyperparathyroidism From Concurrent Parathyroid Hyperplasia and Ectopic Parathyroid Adenoma: A Case Report.","authors":"June Yao, Clarice Szeto, Chantal Riba, Chau Nguyen","doi":"10.1155/crie/2316653","DOIUrl":"10.1155/crie/2316653","url":null,"abstract":"<p><p>Primary hyperparathyroidism (PHPT), whether caused by an adenoma or hyperplasia, can be curative with parathyroidectomy. However, persistently elevated parathyroid hormone (PTH) despite parathyroidectomy suggests multigland disease. We present a case of concurrent single-gland parathyroid hyperplasia and an ectopic parathyroid adenoma in a 72-year-old woman with long-standing PHPT. Despite persistently elevated calcium and PTH levels, all diagnostic imaging was negative for parathyroid hyperplasia and adenoma. PTH remained elevated despite initial parathyroidectomy for hypercellular tissue consistent with hyperplasia. An ectopic paraesophageal parathyroid adenoma was ultimately discovered and resected, resolving the PHPT. This case emphasizes that negative imaging does not exclude active parathyroid disease.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2026 ","pages":"2316653"},"PeriodicalIF":0.8,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12771610/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145916477","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
StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia. StAR蛋白缺乏症的临床实践:来自沙特阿拉伯的病例系列。
IF 0.8
Case Reports in Endocrinology Pub Date : 2026-01-06 eCollection Date: 2026-01-01 DOI: 10.1155/crie/8489134
Abeer Alabduljabbar, Dania Farooq, Sara Abid, Sara Aljazaeri, Raghad Alhuthil, Afaf Alsagheir
{"title":"StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia.","authors":"Abeer Alabduljabbar, Dania Farooq, Sara Abid, Sara Aljazaeri, Raghad Alhuthil, Afaf Alsagheir","doi":"10.1155/crie/8489134","DOIUrl":"10.1155/crie/8489134","url":null,"abstract":"<p><strong>Objectives: </strong>Steroidogenic acute regulatory (StAR) protein deficiency is a rare autosomal recessive disorder that disrupts steroid hormone biosynthesis, resulting in congenital adrenal hyperplasia (CAH) and variations in sexual development. However, limited data is available in Saudi Arabia. Therefore, this study describes the clinical and genetic findings of seven Saudi patients with StAR deficiency.</p><p><strong>Methods: </strong>This case series was conducted at King Faisal Specialist Hospital and Research Centre (KFSHRC) in Riyadh, Saudi Arabia.</p><p><strong>Results: </strong>All seven patients were born to consanguineous parents, most commonly first cousins. Five patients had a 46,XY karyotype, and two had a 46,XX karyotype. All were clinically diagnosed with CAH due to StAR deficiency. Despite their chromosomal sex, all presented with a female external phenotype. Clinical features ranged from typical female genitalia to varying degrees of feminization with bilateral inguinal gonads or undescended testes in 46,XY individuals. Most patients exhibited electrolyte disturbances and chronic salt-wasting. Interestingly, two cases presented with neonatal cholestatic jaundice. Genetic testing confirmed homozygous pathogenic or likely pathogenic <i>STAR</i> variants in all cases. Dysmorphism occurred in one patient with (c.402T >G, p.Tyr134Ter) mutation. The five 46,XY patients underwent bilateral gonadectomy. All patients remain clinically stable on long-term steroid replacement.</p><p><strong>Conclusion: </strong>This study highlights the diverse clinical spectrum of StAR deficiency, ranging from early adrenal crisis to DSD and atypical presentations such as cholestasis. The findings underscore the importance of early genetic diagnosis and counseling, particularly in consanguineous populations, and point to the need for continued research into the clinical and molecular complexity of StAR deficiency.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2026 ","pages":"8489134"},"PeriodicalIF":0.8,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12771632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145916502","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
Levothyroxine-Associated Thyrotoxicosis and Hyperbilirubinemia on Preoperative Screening Evaluation. 左甲状腺素相关性甲状腺毒症和高胆红素血症术前筛查评价。
IF 0.8
Case Reports in Endocrinology Pub Date : 2025-12-22 eCollection Date: 2025-01-01 DOI: 10.1155/crie/4776246
Carly J Suriano, Ian P Erkkila, Thomas M Vara
{"title":"Levothyroxine-Associated Thyrotoxicosis and Hyperbilirubinemia on Preoperative Screening Evaluation.","authors":"Carly J Suriano, Ian P Erkkila, Thomas M Vara","doi":"10.1155/crie/4776246","DOIUrl":"10.1155/crie/4776246","url":null,"abstract":"<p><strong>Background: </strong>Levothyroxine is a commonly prescribed medication for treatment of hypothyroidism in the United States. This drug is titrated based on weight and serial laboratory evaluation and is often very well tolerated with few adverse effects. Levothyroxine-associated liver injury and cholestatic disease are regarded as rare phenomena. We report an additional case of levothyroxine-associated hepatic dysfunction with resolution upon decreased dosage and continued tolerance of the medication.</p><p><strong>Case presentation: </strong>We report a case of a 60-year-old male presenting for preoperative clearance for umbilical hernia repair with previous history of thyroidectomy for multinodular goiter. Laboratory work-up suggested thyrotoxicosis-associated hepatic dysfunction secondary to levothyroxine overtreatment with associated mixed hepatocellular and cholestatic pattern of injury. Extensive work-up failed to reveal other etiology of liver dysfunction and levothyroxine overtreatment was regarded as the likely cause. Complete resolution of the elevated hepatic enzymes occurred with decreased levothyroxine dosing and return of euthyroid state.</p><p><strong>Conclusion: </strong>Although regarded as a rare phenomenon, levothyroxine use and drug-induced thyrotoxicosis should be considered as a possible etiology when evaluating hepatic dysfunction. This case highlights that levothyroxine may be safely continued following a dosing adjustment with noted resolution of hepatic enzyme abnormalities in certain clinical scenarios.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"4776246"},"PeriodicalIF":0.8,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12723184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145827038","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
From Gut to Goiter: How Salmonella Gastroenteritis Causes Thyroid Abscess. 从肠道到甲状腺肿:沙门氏菌胃肠炎如何引起甲状腺脓肿。
IF 0.8
Case Reports in Endocrinology Pub Date : 2025-12-19 eCollection Date: 2025-01-01 DOI: 10.1155/crie/2507383
Andrew R Cunningham, Hailey C Lewis, Sean P Holmes
{"title":"From Gut to Goiter: How Salmonella Gastroenteritis Causes Thyroid Abscess.","authors":"Andrew R Cunningham, Hailey C Lewis, Sean P Holmes","doi":"10.1155/crie/2507383","DOIUrl":"10.1155/crie/2507383","url":null,"abstract":"<p><strong>Introduction: </strong>The innate characteristics of the thyroid gland that resist infection render thyroid abscesses extremely uncommon. Moreover, gram-negative species, such as <i>Salmonella</i> spp., are a rare cause of thyroid abscess from hematogenous dissemination.</p><p><strong>Case description: </strong>A 41-year-old postpartum, breastfeeding female developed neck swelling and dysphagia following gastroenteritis. Imaging revealed a thyroid abscess. Fine needle aspiration (FNA) identified purulent fluid positive for <i>Salmonella</i> spp. Although the patient was initially responsive to antibiotics, recurrent swelling, dysphagia, and transient thyrotoxicosis developed, requiring re-admission. Successful treatment included culture-specific antimicrobials, ultrasound (US)-guided needle drainage, and beta blockers, eliminating the need for surgical intervention.</p><p><strong>Conclusion: </strong>This case highlights a unique Salmonella thyroid abscess from hematogenous spread of infection in an immunocompetent individual. While thyroid abscesses, particularly those caused by <i>Salmonella</i> spp., are rare, clinicians should maintain a broad differential diagnosis, especially following gastrointestinal illness. FNA with culturing, imaging, and targeted antimicrobial therapy is crucial for timely diagnosis and favorable outcomes.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"2507383"},"PeriodicalIF":0.8,"publicationDate":"2025-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12721740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145818152","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
Peritoneal Inclusion Cyst Mimicking Adrenal Pathology in a Young Man: A Rare Case Report. 一例年轻男性模拟肾上腺病理的腹膜包涵囊肿:罕见病例报告。
IF 0.8
Case Reports in Endocrinology Pub Date : 2025-12-17 eCollection Date: 2025-01-01 DOI: 10.1155/crie/9955929
Faezeh Sehatpour, Nekoo Panahi, Farid Kosari, Shirzad Nasiri, Maryam Panahi, Amir Reza Radmard, Mahnaz Pejman Sani
{"title":"Peritoneal Inclusion Cyst Mimicking Adrenal Pathology in a Young Man: A Rare Case Report.","authors":"Faezeh Sehatpour, Nekoo Panahi, Farid Kosari, Shirzad Nasiri, Maryam Panahi, Amir Reza Radmard, Mahnaz Pejman Sani","doi":"10.1155/crie/9955929","DOIUrl":"10.1155/crie/9955929","url":null,"abstract":"<p><p>Peritoneal inclusion cysts (PICs) are rare, benign, and fluid-filled lesions most commonly seen in women of reproductive age, typically associated with a history of abdominal surgery, trauma, or inflammatory conditions. Occurrence in males, especially without predisposing factors, is exceedingly uncommon and can pose significant diagnostic challenges due to their nonspecific clinical and radiological features. We report the case of a 19-year-old male who presented with chronic right lower quadrant abdominal pain persisting for 4 months. Initial sonography revealed an 80 × 50 mm cystic lesion between the liver and kidney, with subsequent imaging-including contrast-enhanced computed tomography and magnetic resonance imaging-suggesting an adrenal cyst. Functional and serological workups for adrenal and hydatid pathology were negative. Due to the lesion's size and persistent symptoms, surgical excision was performed. Intraoperatively, the cyst was found in the retroperitoneal space adjacent to, but not adherent to, the adrenal gland. Histopathological and immunohistochemical analyses confirmed the diagnosis of a PIC. The patient's postoperative recovery was uneventful. This case illustrates the diagnostic complexity of PICs in atypical patient populations. The lesion's radiological resemblance to adrenal or other retroperitoneal cystic masses led to initial misdiagnosis and extensive workup. Literature review reveals very few similar cases in males without prior surgery or inflammation. PICs should be considered in the differential diagnosis of cystic abdominal lesions, even in young males without typical risk factors. Accurate diagnosis relies on a combination of clinical assessment, imaging, and histopathological evaluation to ensure appropriate management.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"9955929"},"PeriodicalIF":0.8,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12721751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145818184","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
Hypophysitis in a HIV-Positive Patient With a Syphilis Latent Infection. hiv阳性患者伴梅毒潜伏感染的垂体炎。
IF 0.8
Case Reports in Endocrinology Pub Date : 2025-12-12 eCollection Date: 2025-01-01 DOI: 10.1155/crie/3692422
Fernando Sotelo-Díaz, Astrid Paola Hernández-Valdez, Ismael Quintal-Medina, Jesús Cajigas-Silva, Sarbelio Moreno-Espinosa, Luis Esteban Ramírez-González, José Guillermo Flores-Vázquez, Lesly Portocarrero-Ortíz
{"title":"Hypophysitis in a HIV-Positive Patient With a Syphilis Latent Infection.","authors":"Fernando Sotelo-Díaz, Astrid Paola Hernández-Valdez, Ismael Quintal-Medina, Jesús Cajigas-Silva, Sarbelio Moreno-Espinosa, Luis Esteban Ramírez-González, José Guillermo Flores-Vázquez, Lesly Portocarrero-Ortíz","doi":"10.1155/crie/3692422","DOIUrl":"10.1155/crie/3692422","url":null,"abstract":"<p><strong>Background: </strong>Hypophysitis is a rare inflammatory disorder of the pituitary gland that may result from primary autoimmune disease or secondary causes such as infection. In people living with HIV, coinfection with <i>Treponema pallidum</i> can precipitate pituitary inflammation, leading to panhypopituitarism, visual field compromise, and neurological symptoms.</p><p><strong>Methods: </strong>Written informed consent was obtained from the patient, with all personal identifiers removed, in compliance with the CARE guidelines.</p><p><strong>Presentation: </strong>A 50-year-old man with known HIV infection and a history of latent syphilis presented to the emergency department with headache, asthenia, adynamia, and visual decline. Laboratory evaluation demonstrated a positive rapid plasma reagin (RPR) test at 1:64, a CD4 count of 391 cells/µL, a viral load of 40,000 copies/mL, and biochemical evidence of panhypopituitarism. Ophthalmologic assessment revealed bitemporal hemianopia. Brain MRI identified a sellar mass compressing the optic chiasm, consistent with an infiltrative pituitary process. The patient was treated with intravenous penicillin and hormone replacement therapy. A follow-up MRI showed a reduction in pituitary size, and 1 month later he reported a resolution of neurological symptoms and a marked improvement in visual acuity.</p><p><strong>Conclusions: </strong>The present description illustrates an uncommon manifestation of syphilis-related hypophysitis in an HIV-positive individual, managed successfully with antibiotics and hormonal supplementation. Although rarely reported in literature, syphilitic hypophysitis should be considered in HIV-infected patients presenting with endocrine deficits and visual field abnormalities. With rising rates of HIV-syphilis coinfection, clinicians may encounter this entity more frequently than previously appreciated.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"3692422"},"PeriodicalIF":0.8,"publicationDate":"2025-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12721724/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145818181","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 Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype. 含复杂基因型的先天性肾上腺增生盐耗型的严重临床表现。
IF 0.8
Case Reports in Endocrinology Pub Date : 2025-12-08 eCollection Date: 2025-01-01 DOI: 10.1155/crie/1599576
Irene Fylaktou, Vasiliki Rengina Tsinopoulou, Amalia Sertedaki, Christina Kanaka-Gantenbein, Assimina Galli-Tsinopoulou
{"title":"Severe Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype.","authors":"Irene Fylaktou, Vasiliki Rengina Tsinopoulou, Amalia Sertedaki, Christina Kanaka-Gantenbein, Assimina Galli-Tsinopoulou","doi":"10.1155/crie/1599576","DOIUrl":"10.1155/crie/1599576","url":null,"abstract":"<p><strong>Background: </strong>21-hydroxylase deficiency (21-OHD) represents the most common form of congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the <i>CYP21A2</i> gene. To date the molecular analysis of the <i>CYP21A2</i> gene is based on the selective <i>CYP21A2</i> gene amplification followed by Sanger sequencing. Herein we present the clinical manifestations, hormonal profile, and application of different molecular strategies to accurately investigate the <i>CYP21A2</i> gene in a newborn presenting with the salt wasting (SW) form of CAH.</p><p><strong>Methods: </strong>The patient, his parents, and the paternal grandparents underwent <i>CYP21A2</i> genotyping employing Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). Furthermore, the patient and his parents underwent a more extended protocol to determine the location of the pathogenic variants identified.</p><p><strong>Results: </strong>The newborn carried three <i>CYP21A2</i> gene copies (two paternal and one maternal), each of them harboring a pathogenic variant, which is in concordance with the clinical manifestations of the SW form of CAH.</p><p><strong>Conclusion: </strong>The molecular investigation of the proband presenting with the SW form of CAH revealed a complex genotype that could only be determined by employing different molecular strategies. Laboratories should be aware of the possibility of complex genotypes in the <i>CYP21A2</i> gene and employ different protocols to avoid the possibility of a genetic misdiagnosis.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"1599576"},"PeriodicalIF":0.8,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12721730/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145818111","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
Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome. 伴发甲状腺球蛋白和SLC26A4基因突变导致胎儿甲状腺肿和先天性甲状腺功能减退的Pendred综合征患者
IF 0.8
Case Reports in Endocrinology Pub Date : 2025-12-04 eCollection Date: 2025-01-01 DOI: 10.1155/crie/8797269
Valeria Calcaterra, Mariano Lanna, Elisa Ligato, Alberto Dolci, Arianna Laoreti, Irene Daniele, Elisa Cattaneo, Gianluca Lista, Valeria Savasi, Gianvincenzo Zuccotti
{"title":"Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome.","authors":"Valeria Calcaterra, Mariano Lanna, Elisa Ligato, Alberto Dolci, Arianna Laoreti, Irene Daniele, Elisa Cattaneo, Gianluca Lista, Valeria Savasi, Gianvincenzo Zuccotti","doi":"10.1155/crie/8797269","DOIUrl":"10.1155/crie/8797269","url":null,"abstract":"<p><p>We described new forms of thyroglobulin gene (TG) mutation resulting in fetal goiter and congenital hypothyroidism in a pendred syndrome (PS) patient. Fetal hypothyroidism was diagnosed, based on ultrasonographic evidence of goiter alongside with fetal blood measurement of TSH (>100 mIU/L); levothyroxine intrauterine treatment was performed. At birth, ultrasound thyroid enlargement and primary hypothyroidism were confirmed. On Day 11, hearing screening using a combination of otoacoustic emissions and auditory brainstem response revealed profound bilateral sensorineural deafness. Genetic analysis revealed TG variants [c.727C>T,p.(Àrg243Trp) and c.67l8G>T,p.(Glu2240Stop) in heterozygosis. Mutation c.164+1delG,p.(Ser55Ilefs<i>⁣</i> <sup><i>∗</i></sup> 11) in homozygosis of the SLC26A4 gene was also detected. The extension of the analysis to the patient's parents revealed the presence of the heterozygous variant in the SLC26A4 gene [c.164+1delG] and in the TG gene [c.727C>T] in the father, and the heterozygous variant in the SLC26A4 gene [c.164+1delG] and in the TG gene [c.6718G>T] in the mother. This is the first report associating mutations in TG with a PS patient. The combination of genetic factors likely contributed to the patient's clinical conditions, which included fetal goiter with CH and profound bilateral hearing loss, representing a rare instance of mutations linked to inherited thyroid disorders.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"8797269"},"PeriodicalIF":0.8,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12698259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145755385","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
Giant Functional Parathyroid Cyst With "Snowstorm" Phenomenon: A Rare Clinical and Imaging Presentation. 巨大的功能性甲状旁腺囊肿伴“暴风雪”现象:罕见的临床和影像学表现。
IF 0.8
Case Reports in Endocrinology Pub Date : 2025-12-03 eCollection Date: 2025-01-01 DOI: 10.1155/crie/9811283
Ismet R Bajrami, Brunilda I Haxhiu, Luljeta Z Abdullahu, Nimet H Orqusha, Basri Z Lenjani, Ilir N Kurtishi, Vjollca I Dedushaj Fazliu, Fisnik I Kurshumliu
{"title":"Giant Functional Parathyroid Cyst With \"Snowstorm\" Phenomenon: A Rare Clinical and Imaging Presentation.","authors":"Ismet R Bajrami, Brunilda I Haxhiu, Luljeta Z Abdullahu, Nimet H Orqusha, Basri Z Lenjani, Ilir N Kurtishi, Vjollca I Dedushaj Fazliu, Fisnik I Kurshumliu","doi":"10.1155/crie/9811283","DOIUrl":"10.1155/crie/9811283","url":null,"abstract":"<p><p>Giant functional parathyroid cysts (PCs) are extremely rare and can present significant diagnostic challenges. We report a case of a 31-year-old woman with primary hyperparathyroidism (PHPT) due to a giant PC, which presented with biochemical features of hyperparathyroidism, compressive symptoms in the neck structures, and a unique ultrasonographic \"snowstorm\" pattern, mimicking thyroid pathology. Diagnosis was confirmed postoperatively by histopathology. This case highlights the importance of including PCs in the differential diagnosis of cystic neck masses, particularly when biochemical and imaging findings are discordant.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"9811283"},"PeriodicalIF":0.8,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12695418/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145741331","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
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