Case Reports in Endocrinology最新文献

{"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}

{"title":"Successful Treatment With Evocalcet Against Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Identified by <i>AP2S1</i> Gene Mutation (p.Arg15Leu).","authors":"Ai Chida, Yutaka Hasegawa, Toshie Segawa, Daisuke Yamabe, Hirotaka Yan, Yusuke Chiba, Hiraku Chiba, Hirofumi Kinno, Tomoyasu Oda, Yoshihiko Takahashi, Koji Nata, Yasushi Ishigaki","doi":"10.1155/crie/9514578","DOIUrl":"10.1155/crie/9514578","url":null,"abstract":"<p><p><b>Background:</b> Familial hypocalciuric hypercalcemia type 3 (FHH3) is a rare hereditary disorder caused by a heterozygous <i>AP2S1</i> gene mutation, characterized by hypocalciuria and hypercalcemia due to impaired intracellular signal transduction of calcium (Ca)-sensing receptors (CaSRs). All affected patients harbored a heterozygous missense mutation at the Arg15 residue of the encoded AP2σ1. <b>Case Presentation:</b> A 21-year-old female was referred to our hospital with hypercalcemia and reduced bone mineral density (BMD) detected during a preoperative examination for scoliosis surgery. She had a developmental disorder and exhibited hypocalciuria on urinalysis. Genetic testing revealed a heterozygous <i>AP2S1</i> gene mutation (p.Arg15Leu), and the patient was diagnosed with FHH3. In the present case, we investigated the effects of evocalcet, a newly approved CaSR agonist. Treatment with evocalcet gradually decreased and normalized the serum Ca level, and promoted improvements in bone metabolism, without serious adverse events. <b>Conclusion:</b> Evocalcet may be a promising therapeutic candidate for symptomatic FHH3.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"9514578"},"PeriodicalIF":0.9,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413484","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 Unusual and Severe Thyrotoxicosis in a Twin Pregnancy: Fortune Favors the Brave.","authors":"Virginia Maltese, Elisa Gatta, Irene Silvestrini, Valentina Anelli, Francesca Bambini, Caterina Buoso, Maria Cavadini, Massimiliano Ugoccioni, Maura Saullo, Fiorella Marini, Elena Gandossi, Andrea Delbarba, Ilenia Pirola, Carlo Cappelli","doi":"10.1155/crie/6298137","DOIUrl":"10.1155/crie/6298137","url":null,"abstract":"<p><p>Graves' disease (GD) and gestational transient thyrotoxicosis (GTT) are the most common causes of thyrotoxicosis during pregnancy, with prevalence ranging from 0.1% to 1% and from 1% to 3%, respectively. Hyperthyroidism during pregnancy can have severe consequences if not promptly recognized and treated. Even more severe, if possible, is the thyroid storm, a life-threatening complication of hyperthyroidism, characterized by severe and dramatic clinical manifestations of thyrotoxicosis. No prior history of thyroid disease, absence of GD stigmata, negative thyrotropin (TSH) receptor antibody levels, serum human chorionic gonadotropin (hCG) higher on average, and symptoms of emesis may lead to the diagnosis of GTT. Few cases of thyroid storm during pregnancy are reported in literature, mainly due to gestational trophoblastic disease. We report a rare and severe case of thyroid storm in a 24-year-old woman at 15 weeks' gestation with twins, likely due to GTT, precipitated by acute myocarditis. Initially presenting with weakness, vomiting, and sinus tachycardia, the patient rapidly deteriorated into a life-threatening condition characterized by hypokalemia, myocardial injury, and severe thyrotoxicosis. Cardiac imaging later revealed acute myocarditis. Thyroid function stabilized at the end of the pregnancy, allowing discontinuation of methimazole. Both fetuses were delivered via emergency cesarean section at 36 weeks, with no significant congenital abnormalities. This case highlights the complexity of diagnosing and managing hyperthyroidism in twin pregnancies, particularly in the context of hyperemesis gravidarum (HG).</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"2025 ","pages":"6298137"},"PeriodicalIF":0.9,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000616","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}