Case Reports in Endocrinology最新文献

{"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":"<p><p><b>Background:</b> 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. <b>Case Presentation</b>: 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. <b>Conclusion</b>: 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.</p>","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}

{"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":"<p><p><b>Background:</b> 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). <b>Case Presentation:</b> 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. <b>Conclusion:</b> 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.</p>","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}

{"title":"A Challenging Case of Congenital Adrenal Hyperplasia Due to CYP11B1 Deficiency With Uncontrolled Hypertension.","authors":"Pierluigi Mazzeo, Filippo Ceccato, Irene Tizianel, Mattia Barbot","doi":"10.1155/crie/1422782","DOIUrl":"https://doi.org/10.1155/crie/1422782","url":null,"abstract":"<p><p>Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency (11<i>β</i>-OHD) is the second most common steroidogenesis impairment in European populations, characterized by hypertension, hypokalemia, infertility, hyperandrogenism, and genital ambiguity in females. We present the case of a biological male patient with 11<i>β</i>-OHD CAH who developed resistant hypertension, along with massive adrenal enlargement and testicular adrenal rests due to inadequate disease control while on dexamethasone treatment, compounded by drug interactions with his antiepileptic therapy. As the patient was reluctant to switch to a three-times-daily hydrocortisone regimen, he was transitioned to dual-release hydrocortisone, resulting in progressive improvement of most of his symptoms. This case highlights the importance of tailored therapy, particularly in rare diseases.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"1422782"},"PeriodicalIF":0.9,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12008488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143982218","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}

{"title":"Heterozygous Hereditary Vitamin D-Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis.","authors":"Risa Goldberg, Gunjan Umarji, Serge Jabbour","doi":"10.1155/crie/2434759","DOIUrl":"https://doi.org/10.1155/crie/2434759","url":null,"abstract":"<p><p>This case report is centered on an atypical presentation of Hereditary Vitamin D-dependent Rickets 2A (VDDR2A), a rare disorder caused by defects in the gene encoding the vitamin D receptor (VDR). While this disorder is primarily autosomal recessive in inheritance, this case demonstrates that a single heterozygous variant in the VDR gene could be linked to both phenotypic and laboratory manifestations of this condition. To understand the pathogenesis of this condition, one must know the typical roles of vitamin D, calcium, and parathyroid hormone (PTH) in maintaining homeostasis in the body. This case report focuses on the underlying pathogenesis of this disorder and demonstrates the variability in the ways this condition can present.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"2434759"},"PeriodicalIF":0.9,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12003035/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143960161","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}

{"title":"An Adult Case of Diabetes With High Levels of GAD Antibodies Without Insulin Deficiency for More Than 10 Years.","authors":"Hideyuki Takeuchi, Naoyuki Iso-O, Atsuko Takai, Takashi Mikamo, Kozue Nagumo, Masumi Hara","doi":"10.1155/crie/9712659","DOIUrl":"https://doi.org/10.1155/crie/9712659","url":null,"abstract":"<p><p>Latent autoimmune diabetes in adults (LADA) or slowly progressive insulin-dependent diabetes mellitus (SPIDDM) is a form of autoimmune diabetes characterized by autoimmune destruction of pancreatic beta cells, leading to deficient insulin secretion. Here, we report a case of diabetes and obesity in a 56-year-old woman. She was diagnosed with severe obesity, impaired glucose tolerance (IGT), and a positive antiglutamic acid decarboxylase antibody (GADA) test result at the age of 39 years. She developed diabetes 7 years later, meeting the diagnostic criteria for SPIDDM (probable). Despite high GADA levels, her endogenous insulin secretion has been preserved for over a decade. GADA has been regarded as a marker of autoimmune destruction of pancreatic beta cells, and high levels of GADA are considered a risk factor for future insulin deficiency. However, the role of GADA in its pathogenesis remains unclear. GADA is not a specific indicator of autoimmune diabetes, as it is also positive for autoimmune diseases such as autoimmune thyroid diseases (AITDs) and stiff-person syndrome. Therefore, a positive GADA test alone is not sufficient to predict insulin deficiency in an individual case, even if the titer is high. In the early stages, autoimmune diabetes presents clinical features similar to those of type 2 diabetes, particularly obesity. Although insulin therapy is often started early in the treatment of autoimmune diabetes, as the consensus statement indicates, when endogenous insulin secretion is preserved and the risk of insulin deficiency is low, efforts should be made to prevent body weight gain and the development of cardiovascular diseases (CVD) by following treatment guidelines for type 2 diabetes, with the exception of the use of sulfonylurea agents.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"9712659"},"PeriodicalIF":0.9,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11987071/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964379","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}

{"title":"Turner Syndrome and Gender Incongruence: Considerations for Gender Affirming Hormonal Therapy.","authors":"Valerie Urban, Kanthi Bangalore-Krishna","doi":"10.1155/crie/6687002","DOIUrl":"https://doi.org/10.1155/crie/6687002","url":null,"abstract":"<p><p>Estrogen and growth hormone have been well established in the management of patients with Turner syndrome (TS) to improve linear growth, body composition, lipid profile, and bone mineral density. The use of testosterone therapy, however, has not been well studied in patients with TS. Furthermore, there is only one other known case report of an adult patient with TS seeking masculinizing therapy. We present an adolescent with mosaicism 45X/46XX who successfully underwent masculinizing therapy and is thriving as a young adult transgender male. This case highlights the benefits of gender affirming care despite the challenges of treatment in a population not previously described.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"6687002"},"PeriodicalIF":0.9,"publicationDate":"2025-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11872288/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540336","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}

{"title":"Thyroid Storm Triggered by Rotavirus Infection in a 10-Year-Old Girl.","authors":"Masazumi Miyahara, Shizuka Otsuki","doi":"10.1155/crie/9960607","DOIUrl":"10.1155/crie/9960607","url":null,"abstract":"<p><p>We encountered a case of Graves' disease in a pediatric patient who presented with thyroid storm (TS), the onset of which was triggered by rotavirus infection. Rotavirus is commonly associated with severe watery diarrhea, vomiting, fever, and dehydration-particularly in infants and young children. In more severe cases, it can also lead to altered consciousness and seizures. These symptoms can resemble those of TS, even in the absence of pre-existing hyperthyroidism. In cases of hyperthyroidism, these symptoms confirm the criteria for TS. Therefore, it is possible that some cases of TS are triggered and caused by gastrointestinal conditions such as rotavirus infection. Our case highlights the need for further investigation into the potential triggering pathogens in patients with TS to better clarify details regarding the patient's status or disease pathogenesis.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"9960607"},"PeriodicalIF":0.9,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413488","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}

{"title":"Arrested Puberty in a Young Adult With a Macroprolactinoma: Case Report and Literature Review.","authors":"Sánchez M, Otazú M, Furtenbach P, Piñeyro M","doi":"10.1155/crie/5388529","DOIUrl":"10.1155/crie/5388529","url":null,"abstract":"<p><p>Prolactinoma is the most common pituitary tumor, with clinical presentations varying according to sex, age of onset, tumor size, and prolactin (PRL) levels. These tumors are rare in the pediatric and adolescent populations. Hyperprolactinemia leads to hypogonadotropic hypogonadism, resulting in reproductive, metabolic, sexual, and skeletal consequences that can affect puberty development. Here, we present the case of a 23-year-old male patient diagnosed with arrested puberty secondary to a macroprolactinoma. The clinical presentation, diagnostic approach, therapeutic management, and a literature review are discussed.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"5388529"},"PeriodicalIF":0.9,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413476","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}

{"title":"Management of Severe Hypertriglyceridemia in Pregnancy With Niacin: Reevaluating Safety and Therapeutic Benefits.","authors":"Nisha Suda, Daisy Leon-Martinez, Patricia R Peter, Clare A Flannery, Roxanna A Irani","doi":"10.1155/crie/2644678","DOIUrl":"10.1155/crie/2644678","url":null,"abstract":"<p><p><b>Background:</b> Severe hypertriglyceridemia (triglycerides (TGs) >1000 mg/dL, >11.3 mmol/L) is a rare but potentially morbid condition in pregnancy. Physiological changes in pregnancy may unmask or exacerbate an underlying defect in TG metabolism. When conventional therapies are ineffective in controlling TG levels, a personalized management approach is needed. We present a case of severe hypertriglyceridemic pancreatitis successfully managed with niacin, a treatment that has seen limited use in pregnancy due to the paucity of available data. <b>Case Presentation:</b> A 29-year-old pregnant woman with a history of cholecystectomy and a prepregnancy BMI of 30.6 kg/m² presented at 12 weeks' gestation with acute pancreatitis and severe hypertriglyceridemia (6900 mg/dL, 77.9 mmol/L). After initial management with intravenous (IV) fluids, insulin infusion, and a low-fat diet, her TG levels improved. However, she was readmitted at 23 weeks' gestation with recurrent hypertriglyceridemia (2872 mg/dL, 32.4 mmol/L), requiring a more aggressive insulin regimen. Despite various interventions, including omega-3 fatty acids (O3FAs), fenofibrate, and central venous catheter insulin infusion, her TG levels remained elevated, necessitating early delivery at 34 weeks' gestation. Her postpartum recovery included continued TG management with fenofibrate and O3FAs. Four years later, during a second pregnancy, she presented with similar hypertriglyceridemia, managed with diet, metformin, fenofibrate, and insulin. Due to persistent hypertriglyceridemia (>3000 mg/dL, 33.9 mmol/L), niacin was added as an additional therapy and titrated to 2000 mg/day, which successfully sustained TG levels below 1000 mg/dL (11.3 mmol/L) through the remainder of her pregnancy. She delivered her second child via cesarean section at 35 weeks' gestation due to preeclampsia. Both children had developmental issues, with her first child diagnosed with attention-deficient hyperactivity disorder (ADHD) and her second child with autism spectrum disorder and motor delays. The patient was encouraged to remain on long-term management for her metabolic condition. <b>Conclusions:</b> Managing severe hypertriglyceridemia during pregnancy is challenging due to uncertainties about treatment efficacy and safety. Timely reduction of maternal TGs is essential to prevent complications and requires adjustments throughout pregnancy. This case demonstrates the effectiveness and safety of niacin, often underutilized due to perceived side effects, in managing severe hypertriglyceridemia in pregnancy when other treatments were inadequate.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"2644678"},"PeriodicalIF":0.9,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413479","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}

{"title":"An Adolescent With a Giant Ovarian Cyst and Hyperandrogenism: Case Report.","authors":"Julio César Moreno-Alfonso, Sara Hernández Martín, Lidia Ayuso González, Alberto Pérez Martínez","doi":"10.1155/crie/6652681","DOIUrl":"10.1155/crie/6652681","url":null,"abstract":"<p><p><b>Objective:</b> To present a rare diagnosis of polycystic ovary syndrome (PCOS) after initial suspicion of malignancy. PCOS is a common endocrine disorder in adolescence characterized by hyperandrogenism and polycystic ovaries. <b>Case Presentation:</b> A 13-year-old female patient was referred for a giant mass noted on examination for metrorrhagia. She had previously presented for hirsutism and acne, treated independently. A multicystic abdominal tumor measuring 21 × 17 × 9 cm was identified, with a nodular image and negative tumor markers, but elevated testosterone and LH/FSH ratio. Therefore, video-assisted ovarian cystectomy was performed. Finally, the patient was diagnosed with PCOS and began hormonal therapy, with improvement of hyperandrogenism. <b>Conclusion:</b> In adolescents with large ovarian cysts, in addition to ruling out malignant neoplasms, PCOS should be considered as these may have similar clinical and radiological presentations.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"6652681"},"PeriodicalIF":0.9,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413474","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}