Journal of Medical Case Reports最新文献

{"title":"The importance of genetic testing in managing developmental epileptic encephalopathy in resource-limited settings: a case report.","authors":"Hashan Pathiraja, Achala Wanasinghe, Hasani Hewavitharana, Bimsara Abeyratna, Pyara Ratnayake","doi":"10.1186/s13256-026-06081-0","DOIUrl":"https://doi.org/10.1186/s13256-026-06081-0","url":null,"abstract":"<p><strong>Background: </strong>Developmental epileptic encephalopathy (DEE) is a severe neurodevelopmental disorder characterized by developmental delay, regression, and intractable seizures. Genetic testing plays a crucial role in identifying underlying pathogenic variants, guiding treatment, and improving patient outcomes, particularly in resource-limited settings.</p><p><strong>Case presentation: </strong>A one-and-a-half-year-old Sri Lankan boy was assessed due to global developmental regression. He exhibited motor delays, with developmental milestones around 9-12 months, including the ability to form a pincer grasp and stand with support. He showed regression in speech and swallowing. By 15 months, he could speak single words, which had reduced to monosyllable babbling by the time of presentation. He was born to healthy, non-consanguineous parents and had a healthy sibling. He had an uncomplicated antenatal and perinatal history and had no history of seizures. His paternal uncle also had developmental delay and epilepsy. He was found to have electrical status epilepticus in sleep (ESES) in the electroencephalogram (EEG) recording, and genetic testing revealed a CACNA₁E loss-of-function mutation. He had a variable response to antiseizure medications, with a good response to acetazolamide and significant functional deterioration with topiramate. He also responded to treatment for ESES.</p><p><strong>Conclusion: </strong>Pathogenic variants of CACNA₁E, particularly those causing either gain-of-function or loss-of-function effects, are linked to severe neurodevelopmental disorders. Clinically, CACNA₁E mutations often present in early childhood with severe neurodevelopmental impairment, global developmental delay, autistic features, feeding difficulties, and self-injurious behaviors. The molecular mechanisms can explain the deterioration with topiramate and the improvement with acetazolamide, as the mutation causes a loss of function of the CACNA₁E gene, which is potentially exacerbated by the blocking of the same channel by topiramate and improved by acetazolamide. This case exemplified the use of genetic diagnosis for precision treatment. It highlighted the need to look for modifiable conditions such as epileptic encephalopathy in children with developmental delay and regression, even in the absence of seizures. The CACNA₁E mutation, EEG finding of ESES, and the responses to targeted treatment add to the literature of this rare disorder.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Schwannoma of the penis: a case report.","authors":"Alireza Sayahan, Siavash Dadras, Eisa Khaledi, Seyed Reza Yahyazadeh, Mahdi Ramezani-Binabaj","doi":"10.1186/s13256-026-06089-6","DOIUrl":"https://doi.org/10.1186/s13256-026-06089-6","url":null,"abstract":"<p><strong>Background: </strong>Schwannomas are benign nerve sheath tumors arising from Schwann cells, most commonly affecting cranial and peripheral nerves. Penile schwannomas are exceptionally rare, with fewer than 50 cases reported worldwide. Their clinical presentation often mimics other soft tissue lesions, posing diagnostic challenges for urologists. This report describes a rare case of penile schwannoma in a middle-aged Iranian man, highlighting its clinical, histopathological, and surgical features.</p><p><strong>Case presentation: </strong>A 52-year-old Iranian Caucasian male presented with a painless, slow-growing, mobile mass on the dorsal glans penis, noted for 2 years with recent enlargement. Physical examination revealed a 10 × 10 mm lobulated lesion without ulceration or discharge. No lymphadenopathy or systemic findings were observed. Surgical excision was performed under local anesthesia, preserving the dorsal penile nerve. Histopathology revealed a well-defined, encapsulated biphasic spindle cell neoplasm with Antoni A and B areas, nuclear palisading, and dense chromatin. Immunohistochemistry showed strong positivity for S100 and SOX10, confirming the diagnosis of schwannoma. Postoperative follow-up over 1 year showed no erectile dysfunction or penile curvature.</p><p><strong>Conclusion: </strong>Penile schwannoma, though rare, should be considered in the differential diagnosis of penile masses. Accurate diagnosis relies on histopathological and immunohistochemical evaluation. Complete surgical excision with nerve preservation offers favorable outcomes and minimal functional impairment.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metformin-induced xerostomia and chapped lips in a 56-year-old patient with early-stage diabetes: a case report.","authors":"Parisa Ghasemiyeh, Soliman Mohammadi-Samani","doi":"10.1186/s13256-026-06051-6","DOIUrl":"https://doi.org/10.1186/s13256-026-06051-6","url":null,"abstract":"<p><strong>Background: </strong>Diabetes mellitus is a common metabolic disorder. To date, over 589 million adults (1 in 9 people) have been diagnosed with diabetes, and over 3.4 million deaths have occurred annually due to diabetes mellitus. Therefore, early diagnosis and management of diabetes are essential to avoid its microvascular and macrovascular complications. Metformin, an oral biguianide, is considered as a first-line oral antidiabetic agent for patients diagnosed with either prediabetes or diabetes.</p><p><strong>Case presentation: </strong>A 56-year-old Iranian male with early-stage diabetes was presented with xerostomia immediately after the first dose of metformin and continued with daily metformin consumption. Metformin-associated xerostomia have not been reported and documented to date. One of the possible causes of metformin-induced xerostomia would be adenosine monophosphate-activated protein kinase overactivation, which may cause reduced saliva production. In addition, mammalian target of rapamycin inhibition may lead to suppression of the salivary gland protein synthesis. Furthermore, metformin-induced Ca²⁺ signaling may result in loss of salivary gland function. In addition, metformin-induced altered insulin sensitivity might be another cause of reduced saliva production.</p><p><strong>Conclusions: </strong>Xerostomia and chapped lips are potential adverse drug reactions following metformin administration. Since metformin is a first-line oral antidiabetic agent that is commonly administered to a majority of patients with prediabetes or type 2 diabetes, it is crucial to closely monitor the patients and warn them about these potential adverse reactions for early diagnosis and management.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Kikuchi-Fujimoto disease complicated with brachial plexus neuritis in a young woman: a case report and review of the literature.","authors":"Yuling Mai, Mingqun Deng, Shengde Li, Yazi Yang, Wei Cao, Yue Guo, Chenglong Liu, Hao Cheng","doi":"10.1186/s13256-026-06076-x","DOIUrl":"https://doi.org/10.1186/s13256-026-06076-x","url":null,"abstract":"<p><strong>Background: </strong>Kikuchi-Fujimoto disease (KFD) is a rare necrotizing lymphadenitis. Brachial plexus neuritis is an exceptionally rare complication of KFD.</p><p><strong>Case presentation: </strong>A 31-year-old Asian female was diagnosed with KFD via excisional biopsy of a posterior cervical lymph node. Four days after the biopsy, pain and disability occurred in her left arm and shoulder. While Magnetic Resonance Imaging (MRI) suspected compression of the brachial plexus nerves, the ultrasound indicated inflammatory changes consistent with neuritis. Diagnosis was challenging; however, distinguishing between mechanical compression and inflammation was crucial. Instead of surgery, steroids and intravenous immunoglobulin (IVIG) were prescribed, and her pain was relieved within 1 week, while her disability did not disappear until 9 months later.</p><p><strong>Conclusions: </strong>We report a rare case of KFD-associated brachial plexus neuritis emerging shortly after lymph node biopsy. We hypothesize that surgical positioning or traction, superimposed on the KFD inflammatory background, may precipitate this condition. Clinicians should be vigilant for this complication to ensure prompt anti-inflammatory treatment and avoid unnecessary secondary surgeries.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retroperitoneal Castleman disease masquerading as a pancreatic neoplasm: a case report and review of the literature.","authors":"Sanket Solanki, Sri Aurobindo Prasad Das, Seema Rao, Samiran Nundy, Naimish N Mehta","doi":"10.1186/s13256-026-06048-1","DOIUrl":"https://doi.org/10.1186/s13256-026-06048-1","url":null,"abstract":"<p><strong>Background: </strong>Castleman disease (CD) is a rare lymphoproliferative disorder of unclear etiology, often presenting as an asymptomatic, incidentally detected mass. The predominant pathological variants include hyaline vascular, plasma cell, and mixed types. Clinically, CD is classified into unicentric (UCD) and multicentric (MCD) forms.</p><p><strong>Case presentation: </strong>Here we report the case of a 34-year-old Indian female with vague left-sided abdominal pain and bilateral lower limb pain, in whom contrast-enhanced CT revealed an incidental well-defined 5.7 × 3.8 × 3.8 cm mass in the gastrohepatic space, initially suggestive of a pancreatic neuroendocrine tumor or gastrointestinal stromal tumor. However, endoscopic ultrasound-guided biopsy indicated a lymphoproliferative neoplasm. Given the discordant imaging and biopsy findings, surgical resection of the mass was undertaken, and the final histopathology confirmed unicentric Castleman disease. No adjuvant therapy was required, and the patient remains disease-free at 2 years of follow-up.</p><p><strong>Conclusion: </strong>This case underscores the favorable prognosis of UCD-complete surgical resection is associated with near 100% long-term survival-and the importance of differentiating such lesions from other retroperitoneal tumors, which are usually malignant. A thorough preoperative evaluation, including an excisional lymph node biopsy or intraoperative frozen section, is recommended to establish the diagnosis and guide management.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Breaking the serologic rule: chronic hepatitis B with simultaneous HBsAg and anti-HBs positivity-a case report.","authors":"Ghada Mohamed Balah, Mohammed Salmen Bazuqamah, Eslam Ahmed Helal, Mohammad Aly Moharram, Hend Masoud Masoud, Amira Abdelfatah Soliman, Ali Ismail Yahya","doi":"10.1186/s13256-026-06091-y","DOIUrl":"https://doi.org/10.1186/s13256-026-06091-y","url":null,"abstract":"<p><strong>Background: </strong>Chronic hepatitis B virus (HBV) infection continues to pose a significant global disease burden, because of its potential progression to liver cirrhosis and hepatocellular carcinoma (HCC). Worldwide, more than 250 million individuals are estimated to be living with chronic HBV infection. Under standard serologic interpretation, the presence of hepatitis B surface antigen (HBsAg) signifies ongoing infection, whereas antibodies to hepatitis B surface antigen (anti-HBs) are generally associated with viral clearance or protective immunity. The simultaneous presence of both markers is rare and may lead to misinterpretation of serologic results, particularly when identified incidentally during routine screening in a primary care settings.</p><p><strong>Case presentation: </strong>We describe a 60-year-old Saudi woman with an asymptomatic chronic HBV infection incidentally identified during routine pre-colonoscopy screening in a primary care setting. Laboratory testing revealed reactive HBsAg, total anti-HBc positivity, reactive anti-HBs titer, and HBV DNA level was 275 IU/mL consistent with low-level viremia. Liver enzymes were mildly elevated on prior testing subsequently normalized on follow- up. Transient elastography demonstrated no evidence of hepatic fibrosis or steatosis. The patient had no history of HBV vaccination, blood transfusions, liver disease, or recognized high-risk exposures, including intravenous drug use or high-risk sexual or household contact.</p><p><strong>Conclusion: </strong>This case highlights a diagnostic pitfall in HBV serology, as concurrent HBsAg and anti-HBs positivity does not indicate viral clearance and may reflect immune escape mutations, viral heterogeneity, or host immune factors. Recognition of this rare serologic profile is particularly important for primary care physicians, as accurate interpretation requires integration of serologic, virologic, and clinical data, particularly in asymptomatic patients identified through routine screening. This ensure appropriate diagnosis, long-term surveillance, and risk stratification. Clinicians should remain vigilant when encountering this rare serologic profile to guide appropriate referral and follow-up.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Jagged-1 mutation is associated with congenital heart defects: a case report.","authors":"Othman Alahmed, Manal Alaamery, Fahad Alhabshan, Farah Chaikhouni, Mohamed S Kabbani, Patrice Bouvagnet, Salam Massadeh","doi":"10.1186/s13256-026-06096-7","DOIUrl":"https://doi.org/10.1186/s13256-026-06096-7","url":null,"abstract":"<p><strong>Background: </strong>Congenital heart defects (CHD) refer to a wide range of heart structural abnormalities that exist at birth, ranging from malformations with a good prognosis to more complicated and severe lesions. Congenital heart defects can result from mutations in genes encoding cell signaling transducers such as Jagged-1 (JAG1). Mutations in JAG1 are linked to rare autosomal-dominant disorders, often resulting from haploinsufficiency in the Notch signaling pathway, which affects organ development. Reporting novel mutations and associated phenotypes emphasizes the importance of tailored approaches based on individual phenotypic and genotypic profiles. Next-generation sequencing techniques facilitate the detection of disease-associated mutations, enabling the development of personalized management strategies.</p><p><strong>Case presentation: </strong>Here, we present a case of a Saudi Arabian female child who was born extremely preterm. She required intubation and mechanical ventilation immediately after birth. She developed bronchopulmonary dysplasia and pulmonary hypertension. At 8 months old, her echocardiogram revealed a large atrial septal defect and a patent ductus arteriosus. She underwent successful patent ductus arteriosus closure. She exhibited severe failure to thrive and was frequently admitted for respiratory infections. Tragically, she passed away at 11 years of age due to pneumonia and pulmonary hypertensive crises. Exome sequencing of the proband, her parents, and her brother identified a previously undescribed likely pathogenic heterozygous missense variant (c.1127A>G) in the JAG1 gene, inherited from her presumed healthy mother, that is associated with an isolated cardiac phenotype.</p><p><strong>Conclusion: </strong>Although JAG1 mutations typically manifest as Alagille syndrome, this case underscores their phenotypic variability, specifically presenting as an isolated congenital heart defect. The clinical course demonstrates that pulmonary hypertension is a severe complication of an atrial septal defect (ASD), where persistent left-to-right shunting triggers irreversible vascular remodeling and terminal right heart failure. Ultimately, this report confirms the incomplete penetrance characteristic of JAG1 variants and suggests that extreme prematurity may function as a significant epigenetic or environmental modifier.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Carney complex with adrenocorticotropic hormone-independent Cushing syndrome with PRKAR1A gene variant: a case report.","authors":"Ranjitha Sivarajan, K Sajitha, Michelle Mathias, Sreelekshmi Abhiram","doi":"10.1186/s13256-026-06040-9","DOIUrl":"https://doi.org/10.1186/s13256-026-06040-9","url":null,"abstract":"<p><strong>Background: </strong>Primary pigmented nodular adrenal disease (PPNAD) is an autosomal dominant condition and a rare cause of Cushing syndrome, independent of pituitary origin, and is adrenocorticotropin (ACTH) independent. Carney complex PPNAD (cPPNAD) is associated with inactivating mutations of the regulatory subunit type 1A of the cAMP-dependent protein kinase (PRKAR1A) gene which is found in more than 70% of Carney complex cases. PRKAR1A is a tumor suppressor gene located in the 17q23-24 region of the human chromosome and plays an important role in regulating cellular metabolism, differentiation, and proliferation.</p><p><strong>Case presentation: </strong>Here we report a case of PPNAD in a 15 year old Indian female presenting with endogenous Cushing syndrome. She underwent bilateral adrenalectomy which on histological evaluation demonstrated pigmented nodular adrenocortical hyperplasia with small to normal sized adrenal glands showing varying number of cortical nodules. In view of the presence of characteristic lentigines, she underwent further evaluation for carney complex and was found to have harbor the PRKAR1A mutation. Subsequent evaluation of her sibling found him to be symptomatic and harbor a similar mutation in a heterozygous state.</p><p><strong>Conclusion: </strong>In young female patients presenting with Cushing's syndrome, and skin pigmentation, evaluation for PRKAR1A mutation and presence of Carney complex should be considered pre-operatively. Unilateral adrenalectomy can be done in young women who may consider pregnancy in the future. Genetic counselling for the patients and the parents may be needed regarding the potential risks associated and educated about the endocrine and cardiac complications. Family members of these patients should undergo appropriate screening, endocrine evaluations, echocardiography, and genetic testing, for early detection and treatment of lesions.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human herpesvirus-6B infection leading to hemophagocytic lymphohistiocytosis in an adult: a case report.","authors":"Ji Yuan, Jinjin Li, Lei Jin, Jun Ye, Zhenhua Zhang","doi":"10.1186/s13256-026-06071-2","DOIUrl":"https://doi.org/10.1186/s13256-026-06071-2","url":null,"abstract":"<p><strong>Background: </strong>Hemophagocytic lymphohistiocytosis (HLH) secondary to human herpesvirus-6B (HHV-6B) infection is rare in immunocompetent adults.</p><p><strong>Case presentation: </strong>We report the case of a 43-year-old East Asian (Chinese) woman who developed HLH, presenting with persistent fever, jaundice, and cytopenias. Metagenomic next-generation sequencing (mNGS) identified HHV-6B in both peripheral blood and liver tissue, thereby establishing the etiologic diagnosis. Prompt initiation of antiviral therapy with ganciclovir, combined with corticosteroids and intravenous immunoglobulin, resulted in rapid clinical remission.</p><p><strong>Conclusions: </strong>This case highlights the critical importance of early pathogen identification using mNGS and timely immunomodulatory treatment for improving outcomes in adult patients with virus-associated HLH.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Premature ovarian insufficiency complicated by metabolic dysfunction, including insulin resistance and dyslipidemia in a 14-year-old girl: a case report.","authors":"Shouyue Chen, Minghui Huang, Yangyang Lin, Mei Wang, Zongjing Zhang, Min Xin","doi":"10.1186/s13256-026-06086-9","DOIUrl":"https://doi.org/10.1186/s13256-026-06086-9","url":null,"abstract":"<p><strong>Background: </strong>Premature ovarian insufficiency (POI) is a rare hypergonadotropic disorder in adolescents, with an incidence under 0.01% before age 20.</p><p><strong>Case presentation: </strong>A 14-year-old Han Chinese girl presented with secondary amenorrhea within 1 year of menarche. After comprehensive examination, she was diagnosed with idiopathic POI, complicating by metabolic dysfunction of insulin resistance (elevated fasting insulin) and dyslipidemia. Treated with cyclic hormone therapy, calcium, and vitamin D₃, she achieved regular withdrawal bleeding and metabolic improvement.</p><p><strong>Conclusion: </strong>Although the occurrence of POI shortly after menarche was extremely rare, POI should be considered in adolescents with secondary amenorrhea, even shortly post-menarche. Multidisciplinary management of reproductive and metabolic health for patients with POI was vital importance.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839069","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}